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Beshah FN, Sanchez-Avila M, Abulaban A, Montoya-Cerrillo D, Ortiz Requena D, Kehinde T, Livingstone AS, Hornicek FJ, D'Amato G, Rosenberg AE, Montgomery EA. Abdominal and intra-abdominal fibromatoses: Outcomes over time. Am J Clin Pathol 2025; 163:744-751. [PMID: 39838617 DOI: 10.1093/ajcp/aqae182] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2024] [Accepted: 12/21/2024] [Indexed: 01/23/2025] Open
Abstract
OBJECTIVES Abdominal wall and intra-abdominal fibromatoses are locally aggressive, nonmetastasizing neoplasms. Surgery has been the mainstay of local control, but new forms of therapy have been developed that may influence the clinical course and morbidity. We studied the clinical features and outcomes of patients with abdominal and intra-abdominal fibromatoses over time. METHODS Ninety-one patients-46 with abdominal wall and 45 with intra-abdominal fibromatosis-treated in our hospital systems between 2009 and 2023 were included. The patients were allocated to 1 of 2 groups based on the year of their initial treatment: before and including 2016 vs 2017-2023. Medical records and available histologic slides were reviewed. RESULTS Forty-six patients were treated between 2009 and 2016, and 45 patients were treated between 2017 and 2023. Patient ages ranged from 1 to 85 years (median, 39 years), and most patients (70%) were women (2:2 men to women). Patients self-reported as Hispanic (49%), followed by White (28%), Black (20%), and Asian (3%). A subset (21%) had familial adenomatous polyposis (FAP)/Gardner syndrome. Individuals with intra-abdominal fibromatoses (37%) were more likely to have FAP than individuals with abdominal wall fibromatosis (4%) (P < .0001). The most common initial treatment before and during vs after 2016 was surgical excision (78% and 51% respectively; P = .02), followed by active surveillance with other medical intervention (9% and 18%, respectively; P = .28) and use of tyrosine kinase inhibitors (0% and 18%, respectively; P = .014). The rate of multivisceral transplant in patients with FAP/Gardner syndrome was 47% vs 4% in patients with sporadic disease (P < .001); most transplants (92%) were performed before and during 2016. The overall tumor recurrence/persistence rate in patients who had undergone surgery was 31%. The recurrence/persistence rate in patients treated before and during 2016 was 39% (median follow-up, 24 months), which fell to 13% (median follow-up, 18 months) in individuals treated after 2016 (P = .032). The overall recurrence/persistence rate in patients with FAP/Gardner syndrome was 64% vs 21% in patients with sporadic disease (P = .002). In patients with sporadic disease, there were recurrences in 29% of patients treated before and during 2016 and in 9% of patients treated thereafter (P = .086). Intra-abdominal vs abdominal wall lesions in patients with FAP and in patients with sporadic disease were more likely to recur (26% vs 10% and 16% vs 5%), but this occurrence did not reach statistical significance (P = .15). Most recurrent tumors were treated by surgical re-excision in both groups. CONCLUSIONS Our data suggest that a combination of less morbid surgical approaches and the addition of nonsurgical approaches (active disease surveillance, use of tyrosine kinase inhibitors and other interventions) have resulted in substantially fewer surgical interventions over time for intra-abdominal and abdominal wall fibromatoses treated between 2009 and 2023. The overall probability of recurrences, however, in patients treated surgically remains similar.
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Affiliation(s)
- Fireneh N Beshah
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Monica Sanchez-Avila
- Department of Pathology, University of Colorado Anschutz Medical Campus, Aurora, CO, US
| | - Amr Abulaban
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Diego Montoya-Cerrillo
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Domenika Ortiz Requena
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Temitope Kehinde
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Alan S Livingstone
- Department of Oncologic Surgery, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | | | - Gina D'Amato
- Sylvester Cancer Center of the University of Miami, Miami, FL, US
| | - Andrew E Rosenberg
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
| | - Elizabeth A Montgomery
- Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine and Jackson Memorial Hospital, Miami, FL, US
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Rodriguez Pena MDC, Papke DJ. When Is It Important to Sequence Sarcomas and Other Mesenchymal Neoplasms? A Practical Guide to Molecular Testing. Hematol Oncol Clin North Am 2025:S0889-8588(25)00039-5. [PMID: 40374391 DOI: 10.1016/j.hoc.2025.04.001] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 05/17/2025]
Abstract
The increasingly widespread availability of next-generation sequencing has led to its incorporation as a diagnostic tool in pathology and a modality for identifying targetable alterations. However, sequencing is still a somewhat expensive and time-consuming. Here, we discuss tumor types for which (1) molecular testing is not generally indicated, (2) surrogate immunohistochemical markers have rendered molecular testing unnecessary, or (3) sequencing is important for diagnostic and therapeutic purposes. We also provide a practical framework to assist in decision-making for molecular testing of both classified and unclassified mesenchymal neoplasms, reflecting our practice in a tertiary sarcoma referral center.
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Affiliation(s)
| | - David J Papke
- Department of Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA.
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Sasaki E, Fujita Y, Masago K, Iwakoshi A, Hanai N, Matsushita H. S100-positive stroma in salivary gland basal cell adenomas: a neoplastic component with CTNNB1 mutations. Virchows Arch 2025; 486:1033-1038. [PMID: 39724428 DOI: 10.1007/s00428-024-04021-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/01/2024] [Revised: 12/16/2024] [Accepted: 12/18/2024] [Indexed: 12/28/2024]
Abstract
Basal cell adenomas (BCAs) are benign epithelial tumors of the salivary gland, characterized by the proliferation of basaloid and luminal cells. In addition, a distinctive spindle cell stroma, that is immunohistochemically-positive for S100, is often observed in BCAs. Based on the ultrastructural findings, the S100-positive stroma was presumed to originate from neoplastic myoepithelial cells. However, immunohistochemical studies do not provide strong evidence supporting a myoepithelial origin, and the true nature of this stroma remains elusive. The aim of this study was to determine whether the S100-positive stroma was neoplastic through a molecular analysis. We selected 2 cases involving BCAs with at least one S100-positive stromal area within the tumor, measuring ≥ 0.2 × 0.2 mm. CTNNB1 I35T mutations were detected in both tumors by Sanger sequencing. Two areas of S100-positive stroma from these two tumors were successfully dissected by manual microdissection using a stereomicroscope without contamination from the surrounding neoplastic bilayered epithelial cells. Because of the small number of dissected stromal cells, the mutation status of these two areas was analyzed using digital PCR, and CTNNB1 I35T mutations were detected in both. In conclusion, this study demonstrated that the S100-positive stroma of BCAs exhibits a neoplastic nature from a molecular perspective. While future studies are needed to confirm whether the S100-positive stroma originates from myoepithelial cells, BCAs morphologically display tricellular differentiation, with neoplastic spindle-shaped stromal cells along with a bilayered neoplastic epithelium.
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Affiliation(s)
- Eiichi Sasaki
- Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital, 1-1 Kanokoden, Chikusa-Ku, Nagoya, Aichi, 464-8681, Japan.
- Division of Translational Oncoimmunology, Aichi Cancer Center Research Institute, Nagoya, Japan.
- Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan.
| | - Yasuko Fujita
- Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital, 1-1 Kanokoden, Chikusa-Ku, Nagoya, Aichi, 464-8681, Japan
| | - Katsuhiro Masago
- Department of Pathology and Molecular Diagnostics, Aichi Cancer Center Hospital, 1-1 Kanokoden, Chikusa-Ku, Nagoya, Aichi, 464-8681, Japan
- Division of Translational Oncoimmunology, Aichi Cancer Center Research Institute, Nagoya, Japan
| | - Akari Iwakoshi
- Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
- Department of Pathology, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
| | - Nobuhiro Hanai
- Department of Head and Neck Surgery, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Hirokazu Matsushita
- Division of Translational Oncoimmunology, Aichi Cancer Center Research Institute, Nagoya, Japan
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Tanishima T, Kurokawa R, Sone M, Nakai Y, Kusumoto M. Radiological features of pancreatic desmoid-type fibromatosis: a case series and systematic review. Abdom Radiol (NY) 2025; 50:839-850. [PMID: 39278889 PMCID: PMC11794332 DOI: 10.1007/s00261-024-04570-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/18/2024] [Revised: 08/09/2024] [Accepted: 09/03/2024] [Indexed: 09/18/2024]
Abstract
PURPOSE This retrospective study aimed to investigate the radiological features of pancreatic desmoid-type fibromatosis (PDF) and systematically review the previous publications and two new cases. METHODS We searched PubMed, Cochrane Library, and Web of Science Core Collection and included 31 patients with pathologically proven PDFs with analyzable preoperative computed tomography (CT) and magnetic resonance imaging, including two patients from our institution and 29 patients from 28 publications. Two board-certified radiologists reviewed all images. RESULTS The median age of the patients was 39 years, with a male dominance observed (male, 54.8% vs. female, 45.2%). Abdominal pain was the most frequent symptom, occurring in 58.1% of cases. Surgical resection was performed in all cases of PDFs, resulting in a recurrence rate of 8.3% (2/24). The tumors were most commonly located in the pancreatic tail (23/31, 74.2%). In terms of morphology, a "solid" shape was most prevalent (14/31, 45.2%), followed by a "solid and cystic" shape (9/31, 29.0%) and a "cystic" shape (8/31, 25.8%). Characteristic radiological features included heterogeneous enhancement of the solid portion of the tumors on CT scans (13/20, 65%), moderate-to-weak enhancement in the late phase on CT (16/17, 94.1%), and a presence of cystic components in the tumors (17/31, 54.8%). In 16.1% (5/31) of PDFs, the cystic component was pathologically confirmed to be a dilated pancreatic duct. CONCLUSION We summarized the clinical and imaging characteristics of PDF. Although the incidence may not be high, cystic components suggesting a dilated pancreatic duct within the tumor are unique imaging features in PDF.
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Affiliation(s)
- Tomoya Tanishima
- Department of Diagnostic Radiology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan
- Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan
| | - Ryo Kurokawa
- Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
| | - Miyuki Sone
- Department of Diagnostic Radiology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan
| | - Yudai Nakai
- Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan
| | - Masahiko Kusumoto
- Department of Diagnostic Radiology, National Cancer Center Hospital, 5-1-1 Tsukiji, Chuo-ku, Tokyo, 104-0045, Japan
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Li C, Dong L, Zhu L, Guan W. Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation. World J Surg Oncol 2025; 23:30. [PMID: 39881334 PMCID: PMC11776337 DOI: 10.1186/s12957-025-03675-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2024] [Accepted: 01/19/2025] [Indexed: 01/31/2025] Open
Abstract
OBJECTIVE This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon. METHODS Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells). The diagnostic rate of LEF1 alone, β-catenin alone, and their combination were compared for each tumor type and all patients. RESULTS Compared to β-catenin, when LEF1 alone was used for diagnosis, the diagnostic rate increased by 46.16% for BA, 16.67% for SPN, and 11.25% for all patients, but decreased by 23.34% for DF. The combined use of β-catenin and LEF1 significantly increased the diagnostic ratio in BA (46.16%), SPN (16.67%), and all patients (21.25%), but only marginally in DF (3.33%). In terms of all WNT pathway tumors with CTNNB1 gene mutation encompassed by our study, statistical analysis revealed no significant difference between LEF1 alone and β-catenin alone. However, their combined application was highly significant (P = 0.001) . CONCLUSION While β-catenin is commonly used as a marker for WNT pathway tumors, its variable expression and localization can be challenging for diagnosis. Our study emphasizes the importance of LEF1 as a complementary marker to β-catenin in diagnosing BA, DF, SPN, and other WNT pathway tumors activated by exon 3 CTNNB1 gene mutation. The combined use of LEF1 and β-catenin enhances diagnostic accuracy and may help the identification of these tumor types.
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Affiliation(s)
- Can Li
- Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China
| | - Lingdan Dong
- Department of Pathology, Maternal and Child health Hospital of Hubei Province, Wuhan, China
| | - Li Zhu
- Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China
| | - Wenbin Guan
- Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Yangpu District, Shanghai, 200092, China.
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Ajabnoor R. Different Shades of Desmoid-Type Fibromatosis (DTF): Detection of Noval Mutations in the Clinicopathologic Analysis of 32 Cases. Diagnostics (Basel) 2024; 14:2161. [PMID: 39410565 PMCID: PMC11476057 DOI: 10.3390/diagnostics14192161] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/25/2024] [Revised: 08/30/2024] [Accepted: 09/13/2024] [Indexed: 10/20/2024] Open
Abstract
BACKGROUND Desmoid-type fibromatosis (DTF) is a locally aggressive myofibroblastic/fibroblastic neoplasm with a high risk of local recurrence. It has a variety of histologic features that might confuse diagnosis, especially when detected during core needle biopsy. The Wnt/β-catenin pathway is strongly linked to the pathogenesis of DT fibromatosis. METHOD This study examined 33 desmoid-type fibromatoses (DTFs) from 32 patients, analyzing its clinical characteristics, histologic patterns, occurrence rates, relationship with clinical outcomes, immunohistochemical and molecular findings. RESULTS The DTFs exhibit a range of 1 to 7 histologic patterns per tumor, including conventional, hypercellular, myxoid, hyalinized/hypocellular, staghorn/hemangiopericytomatous blood vessels pattern, nodular fasciitis-like, and keloid-like morphology. No substantial association was found between the existence of different histologic patterns and the clinical outcome. All thirty-three (100%) samples of DTF had a variable percentage of cells that were nuclear positive for β-catenin. An NGS analysis detected novel non-CTNNB1 mutations in two DTFs, including BCL10, MPL, and RBM10 gene mutations. CONCLUSIONS This study reveals a diverse morphology of DTFs that could result in misdiagnosis. Therefore, surgical pathologists must comprehend this thoroughly. Also, the importance of the newly identified non-CTNNB1 gene mutations is still unclear. More research and analyses are needed to completely grasp the clinical implications of these mutations.
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Affiliation(s)
- Rana Ajabnoor
- Department of Pathology, Faculty of Medicine, King Abdulaziz University and King Abdulaziz University Hospital, Jeddah 22252, Saudi Arabia
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Ayadi A, Houcine Y, Moussa C, Rouis H, Abid T, Hugues B, Le Loarer F. Primary lung low-grade fibromyxoid sarcoma: A rare case with A diagnostic dilemma. Rare Tumors 2024; 16:20363613241234201. [PMID: 38435384 PMCID: PMC10906048 DOI: 10.1177/20363613241234201] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/19/2023] [Accepted: 02/02/2024] [Indexed: 03/05/2024] Open
Abstract
Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for benign or more rarely malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years late. Visceral LGFMS is extremely rare. Only a few cases of primary LGFMS of the lung have been reported. Here, we present the clinical, gross, microscopic, and immunohistochemical characteristics of Evans tumor occurring in the lung with a review of the literature and discuss the differential diagnosis in this exceptional localization.
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Affiliation(s)
- Aida Ayadi
- Faculty of Medicine, El Manar University, Ariana, Tunisia
| | - Yoldez Houcine
- Faculty of Medicine, El Manar University, Ariana, Tunisia
| | - Chirine Moussa
- Pneumology Department 1, Abderrahmen Mami Hospital, Ariana, Tunisia
| | - Houda Rouis
- Pneumology Department 1, Abderrahmen Mami Hospital, Ariana, Tunisia
| | - Tarek Abid
- Pasteur Clinic, Pulmonologist, Ariana, Tunisia
| | - Begueret Hugues
- Haut-Lévêque Hospital, Bordeaux University Hospital, Pessac, France
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Dos Reys MP, Borges LAB, Souza FR, Nakagaki KY, Cassali GD. Mammary fibromatosis in a female dog: case report. J Comp Pathol 2024; 208:1-4. [PMID: 38007888 DOI: 10.1016/j.jcpa.2023.11.002] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2023] [Revised: 10/16/2023] [Accepted: 11/02/2023] [Indexed: 11/28/2023]
Abstract
Fibromatosis, or desmoid tumour, is characterized by excessive and infiltrative proliferation of connective tissue originating from aponeurotic muscle structures. Mammary fibromatosis is rare in humans and animals and its precise aetiology is unknown. A 10-year-old mixed-breed female dog developed a mass in the right cranial thoracic mammary gland (M1) and underwent lumpectomy. The mass was firm, with an irregular surface and distinct limits. Microscopically, it was a neoplastic proliferation of fusiform cells with low atypia, interspersed with abundant dense collagenous tissue, confirmed by histochemical staining with Gomori's trichrome and Masson's trichrome and immunopositivity for vimentin and smooth muscle actin, confirming mammary fibromatosis. Mammary fibromatosis in dogs needs further studies to elucidate its clinical, epidemiological and aetiopathogenic aspects.
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Affiliation(s)
- Marina P Dos Reys
- Laboratório de Patologia Comparada, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Avenida Presidente Antônio Carlos, 6627, Pampulha, Belo Horizonte, 31270-901, Minas Gerais, Brazil
| | - Lize A B Borges
- Laboratório de Patologia Comparada, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Avenida Presidente Antônio Carlos, 6627, Pampulha, Belo Horizonte, 31270-901, Minas Gerais, Brazil
| | - Fernanda R Souza
- Laboratório de Patologia Comparada, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Avenida Presidente Antônio Carlos, 6627, Pampulha, Belo Horizonte, 31270-901, Minas Gerais, Brazil
| | - Karen Y Nakagaki
- Celulavet - Centro de Diagnóstico Veterinário, Avenida Santa Terezinha, 214, Santa Terezinha, Belo Horizonte, 31365-000, Minas Gerais, Brazil
| | - Geovanni D Cassali
- Laboratório de Patologia Comparada, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Avenida Presidente Antônio Carlos, 6627, Pampulha, Belo Horizonte, 31270-901, Minas Gerais, Brazil.
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Rerkpichaisuth V, Hung YP. Mesenchymal tumours of the pleura: review and update. Histopathology 2024; 84:163-182. [PMID: 37691389 DOI: 10.1111/his.15035] [Citation(s) in RCA: 1] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/26/2023] [Revised: 08/10/2023] [Accepted: 08/14/2023] [Indexed: 09/12/2023]
Abstract
Primary mesenchymal tumours of the pleura are uncommon and can be diagnostically challenging due to their overlapping histopathologic and immunophenotypic features. Herein we discuss selected mesenchymal tumours of the pleura, including solitary fibrous tumour, calcifying fibrous tumour, desmoid fibromatosis, synovial sarcoma, schwannoma, malignant peripheral nerve sheath tumour, inflammatory myofibroblastic tumour, follicular dendritic cell sarcoma, epithelioid hemangioendothelioma, and desmoplastic small round cell tumour. We review their clinicopathologic characteristics, along with an update on the relevant immunohistochemical and molecular features.
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Affiliation(s)
- Vilasinee Rerkpichaisuth
- Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
- Department of Pathology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
| | - Yin P Hung
- Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA
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He X, Jing W, He X, Chen M, Zhang H. Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation. Front Oncol 2023; 13:1269078. [PMID: 38179169 PMCID: PMC10765539 DOI: 10.3389/fonc.2023.1269078] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2023] [Accepted: 11/23/2023] [Indexed: 01/06/2024] Open
Abstract
Low-grade fibromyxoid sarcoma (LGFMS) is a rare malignant fibroblastic tumor, principally affecting the deep tissues of the proximal trunk and extremities in young adults. However, primary pleural LGFMS is extremely rare, and only three cases have been reported in the previous English literature without genetic confirmation. Furthermore, the historical pleural LGFMS cases were all adults, and the primary pleural LGFMS in children has never been reported to date. Here, we presented a primary pleural LGFMS in a 4-year-old boy with detailed clinical, pathological, and molecular results. Histologically, the current tumor showed typical alternating collagenous and myxoid areas, containing spindled or oval tumor cells arranged in a whorled and short fascicular pattern. In some areas, the tumor cells exhibited moderate atypia, and mitotic figures were identified but without the identification of giant collagen rosettes. Immunohistochemically, all the neoplastic cells showed strong and diffuse positivity for MUC4. Genetically, FUS gene rearrangement was revealed by fluorescence in-situ hybridization (FISH), and subsequently, next-generation sequencing (NGS) and polymerase chain reaction (PCR) further demonstrated the FUS::CREB3L2 fusion transcript. To the best of our knowledge, this is the first case of primary pleural LGFMS with the identification of FUS gene rearrangement and FUS::CREB3L2 fusion in a 4-year-old child. Our study expands the age range of pleural LGFMS and highlights the combination of morphological, immunohistochemical, and molecular analyses in such challenging cases.
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Affiliation(s)
| | | | | | | | - Hongying Zhang
- Department of Pathology, West China Hospital, Sichuan University, Chengdu, China
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Mindiola Romero AE, Tafe LJ, Green DC, Deharvengt SJ, Winnick KN, Tsongalis GJ, Baker ML, Linos K, Levy JJ, Kerr DA. Utility of Retrospective Molecular Analysis in Diagnostically Challenging Mesenchymal Neoplasms. Int J Surg Pathol 2023; 31:1473-1484. [PMID: 36911994 DOI: 10.1177/10668969231157783] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/14/2023]
Abstract
Introduction: Molecular analysis plays a growing role in the diagnosis of mesenchymal neoplasms. The aim of this study was to retrospectively apply broad, multiplex molecular assays (a solid tumor targeted next-generation sequencing [NGS]) assay and single nucleotide polymorphism [SNP] microarray) to selected tumors, exploring the current utility and limitations. Methods: We searched our database (2010-2020) for diagnostically challenging mesenchymal neoplasms. After histologic review of available slides, tissue blocks were selected for NGS, SNP microarray, or both. DNA and RNA were extracted using the AllPrep DNA/RNA FFPE Kit Protocol on the QIAcube instrument. The NGS platform used was the TruSight Tumor 170 (TST-170). For SNP array, copy number variant (CNV) analysis was performed using the OncoScanTM CNV Plus Assay. Results: DNA/RNA was successfully extracted from 50% of tumors (n = 10/20). Specimens not successfully extracted included 6 core biopsies, 3 incisional biopsies, and 1 resection; 4 were decalcified (3 hydrochloric acid, 1 ethylenediaminetetraacetic acid). Higher tumor proportion and number of tumor cells were parameters positively associated with sufficient DNA/RNA extraction whereas necrosis and decalcification were negatively associated with sufficient extraction. Molecular testing helped reach a definitive diagnosis in 50% of tumors (n = 5/10). Conclusions: Although the overall utility of this approach is limited, these molecular panels can be helpful in detecting a specific "driver" alteration.
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Affiliation(s)
- Andres E Mindiola Romero
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Laura J Tafe
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Donald C Green
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
| | - Sophie J Deharvengt
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
| | - Kimberly N Winnick
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
| | - Gregory J Tsongalis
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Michael L Baker
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Konstantinos Linos
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Joshua J Levy
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
| | - Darcy A Kerr
- Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA
- Geisel School of Medicine at Dartmouth, Dartmouth College, Hanover, NH, USA
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Chen S, Gallant S, Cunningham MJ, Robson CD, Church AJ, Perez-Atayde AR, Al-Ibraheemi A. CTNNB1 and APC Mutations in Sinonasal Myxoma : Expanding the Spectrum of Tumors Driven By WNT/β-catenin Pathway. Am J Surg Pathol 2023; 47:1291-1300. [PMID: 37589277 DOI: 10.1097/pas.0000000000002112] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 08/18/2023]
Abstract
Sinonasal myxoma (SNM) is a rare, benign mesenchymal neoplasm with distinct clinicopathologic features and aberrant nuclear localization of β-catenin by immunohistochemistry. The molecular underpinnings have been linked to that of a "myxoid variant" of desmoid fibromatosis. Herein, we describe a series of 8 cases of SNM and propose clinical and biologic differences compared with desmoid fibromatosis. Our patient cohort is comprised of 5 males and 3 females (age range: 10 mo to 12 y), 6 of whom are aged less than or equal to 24 months. All presented with facial swelling, reflecting lesions involving the maxillary bone, and all underwent resection. All tumors were variably cellular and comprised of bland spindled to stellate cells in a profusely myxoid background with diffuse nuclear β-catenin expression. All cases of SNM were analyzed by next-generation sequencing using the Oncopanel assay. Three cases failed sequencing, 2 of 5 successful cases exhibited exon 3 CTNNB1 alterations involving the ubiquitin recognition motif, and 3 had adenomatous polyposis coli ( APC ) deletions. One patient had APC germline testing which was negative. No germline testing was available for the remaining 7 patients. Follow-up data over a range of 1 month to 23 years was available for 7 of the 8 SNMs. One case patient had local recurrence, and all were alive without evidence of disease. This is in contrast to the high recurrence rate typically seen in desmoid fibromatosis, particularly after resection. Our findings expand the spectrum of tumors with underlying WNT/β-catenin pathway and highlight the histologic, clinical, and genetic differences of SNM compared with desmoid fibromatosis. APC deletion raises the possibility of underlying germline alteration and familial adenomatous polyposis.
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Affiliation(s)
- Sonja Chen
- Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH
| | - Sara Gallant
- Departments of Otolaryngology and Communication Enhancement
- Harvard Medical School, Boston, MA
| | - Michael J Cunningham
- Departments of Otolaryngology and Communication Enhancement
- Harvard Medical School, Boston, MA
| | | | - Alanna J Church
- Pathology and Laboratory Medicine, Boston Children's Hospital
- Harvard Medical School, Boston, MA
| | - Antonio R Perez-Atayde
- Pathology and Laboratory Medicine, Boston Children's Hospital
- Harvard Medical School, Boston, MA
| | - Alyaa Al-Ibraheemi
- Pathology and Laboratory Medicine, Boston Children's Hospital
- Harvard Medical School, Boston, MA
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13
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Das SS, Navlani S, Alawa A, Abbas FM, Raman LG, Mestha A. Challenging Diagnostic Dilemma: Mesenteric Desmoid Tumor Masquerading as Perforated Peritonitis. Cureus 2023; 15:e42946. [PMID: 37667699 PMCID: PMC10475247 DOI: 10.7759/cureus.42946] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 08/04/2023] [Indexed: 09/06/2023] Open
Abstract
Desmoid fibromatosis is a rare benign neoplasm of the soft tissue. Primary desmoid neoplasms rarely occur in the small bowel and are primarily found in patients with a previous abdominal surgery or irradiation history. They are challenging to diagnose at the time of presentation due to a lower incidence and their non-specific presentation making it difficult to distinguish from other intra-abdominal neoplasms, such as gastrointestinal stromal tumors (GISTs), which may present with similar symptoms. We like to present a case of a 34-year-old male with a four-day history of abdominal pain with worsening severity and one episode of non-bloody vomiting. Physical examination was significant for generalized abdominal tenderness with positive rebound and board-like rigidity. A computed tomography (CT) scan of the abdomen showed the presence of a lower abdominal mass of unknown etiology with free air foci and free intraperitoneal fluid either due to rupture of the suspicious mass or secondary to infection by an air-producing organism. The patient was immediately taken for emergency surgery, the tumor was resected successfully, and a specimen collected was sent for histopathology, which came out to be a desmoid tumor. We aim to highlight the importance of keeping a broad differential diagnosis in a patient with acute abdomen and symptoms of peritonitis.
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Affiliation(s)
| | - Sahil Navlani
- Medical School, Dubai Academic Health Corporation, Dubai, ARE
| | - Arfan Alawa
- General Surgery, Dubai Health Authority, Dubai, ARE
| | | | | | - Akshata Mestha
- Medical School, Dubai Academic Health Corporation, Dubai, ARE
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14
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Liu J, Wei J, Yang Y, Wei J. Pathological discrimination between luteinized thecoma associated with sclerosing peritonitis and thecoma. Medicine (Baltimore) 2023; 102:e33911. [PMID: 37335673 PMCID: PMC10256399 DOI: 10.1097/md.0000000000033911] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 01/20/2023] [Accepted: 05/12/2023] [Indexed: 06/21/2023] Open
Abstract
BACKGROUND Similarities between luteinized thecoma associated with sclerosing peritonitis (LTSP) and thecoma, cause difficulty in clinical differential diagnoses. To improve the situation, we selected 10 specified molecular pathological markers that are frequently used in clinical pathology of ovarian sex cord-stromal tumors to determine whether they exert a discriminatory effect. METHODS Applying immunohistochemistry, we analyzed the expression of alpha-1,6-mannosylglycoprotein 6-beta-n-acetylglucosaminyltransferase B (MGAT5B), nuclear receptor coactivator 3 (NCOA3), proliferation marker protein Ki-67 (MKI67), estrogen receptor, progesterone receptor, Vimentin, receptor tyrosine-protein kinase erbB-2, Catenin beta-1 (β-Catenin), CD99 antigen (CD99) and Wilms tumor protein (WT1) in 102 cases of diseases containing 11 LTSP and 91 thecoma. Whole-exome sequencing and fluorescence in situ hybridization were used to examine the MGAT5B-NCOA3 fusion gene in LTSP. Statistical analysis was performed using t test, one-way analysis of variance test, and post hoc test. RESULTS Six significant markers were verified for the discrimination between LTSP and thecoma, containing 4 upregulating indicators MGAT5B, NCOA3, MKI67, β-Catenin, and 2 downregulating markers CD99 and WT1 in luteinized cells. In addition, the MGAT5B-NCOA3 fusion gene was identified in LTSP for the first time with significantly rich expression compared to thecoma. CONCLUSIONS We verified 6 significant molecular pathological markers containing MGAT5B, NCOA3, MKI67, β-Catenin, CD99, and WT1 and identified MGAT5B-NCOA3 fusion gene in LTSP; this work will help clinicians to discriminate between medical conditions and treat patients accurately.
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Affiliation(s)
- Jia Liu
- Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei Province, China
| | - Jia Wei
- Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei Province, China
| | - Yiqun Yang
- Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei Province, China
| | - Juncheng Wei
- Department of Obstetrics & Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Hubei Province, China
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15
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Choi JH, Ro JY. The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors. Int J Mol Sci 2023; 24:ijms24065934. [PMID: 36983010 PMCID: PMC10051446 DOI: 10.3390/ijms24065934] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/17/2023] [Revised: 03/17/2023] [Accepted: 03/19/2023] [Indexed: 03/30/2023] Open
Abstract
Soft tissue tumors are rare mesenchymal tumors with divergent differentiation. The diagnosis of soft tissue tumors is challenging for pathologists owing to the diversity of tumor types and histological overlap among the tumor entities. Present-day understanding of the molecular pathogenesis of soft tissue tumors has rapidly increased with the development of molecular genetic techniques (e.g., next-generation sequencing). Additionally, immunohistochemical markers that serve as surrogate markers for recurrent translocations in soft tissue tumors have been developed. This review aims to provide an update on recently described molecular findings and relevant novel immunohistochemical markers in selected soft tissue tumors.
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Affiliation(s)
- Joon Hyuk Choi
- Department of Pathology, Yeungnam University College of Medicine, 170 Hyeonchung-ro, Namgu, Daegu 42415, Republic of Korea
| | - Jae Y Ro
- Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College, Cornell University, Houston, TX 77030, USA
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16
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Dermawan JK, Villafania L, Bale T, Singer S, D’Angelo SP, Tap WD, Antonescu CR. TRAF7-mutated Fibromyxoid Spindle Cell Tumors Are Associated With an Aggressive Clinical Course and Harbor an Undifferentiated Sarcoma Methylation Signature: A Molecular and Clinicopathologic Study of 3 Cases. Am J Surg Pathol 2023; 47:270-277. [PMID: 36395468 PMCID: PMC9840690 DOI: 10.1097/pas.0000000000001997] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
Abstract
TRAF7 somatic mutations are rare and have been reported in meningiomas, intraneural perineuriomas, and mesotheliomas. Triggered by an index case of an unclassified low-grade mesenchymal tumor with TRAF7 mutation as the only genetic alteration, we searched our files and identified 2 additional cases with similar features. The tumors arose in 2 females and 1 male, aged 63 to 75 years old (median: 67 y). They were infiltrative deep soft tissue masses involving the shoulder, chest wall, and thigh, measuring 7.0 to 9.1 cm in greatest dimensions. One tumor was locally aggressive, and 2 were associated with lung and bone metastases. The tumors displayed alternating fibrous and myxoid stroma with mild to moderate cellularity and consisted of uniform spindle cells with open chromatin, inconspicuous nucleoli and scant cytoplasm. Significant mitotic activity or necrosis were not present. However, the metastatic tumor of 1 case showed an epithelioid morphology and brisk mitotic activity. Immunohistochemically, the tumors showed nonspecific and focal smooth muscle actin or CD34 expression. By DNA sequencing, all 3 cases harbored TRAF7 missense mutations involving the C-terminal WD40 domains as the only somatic mutations, showed nonrecurrent focal copy number alterations, and were negative for gene fusions by targeted RNA sequencing. On methylation profiling, the tumors clustered with the undifferentiated sarcoma and myxofibrosarcoma methylation classes and were distinct from morphologic mimics. On follow-up (5 to 36 mo), 2 patients died of disease following aggressive chemotherapeutic regimens. We describe a novel TRAF7- mutated mesenchymal tumor characterized by aggressive clinical behavior despite the histologic appearance of a low-grade fibromyxoid spindle cell tumor.
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Affiliation(s)
- Josephine K. Dermawan
- Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Liliana Villafania
- Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Tejus Bale
- Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Samuel Singer
- Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Sandra P. D’Angelo
- Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - William D. Tap
- Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA
| | - Cristina R. Antonescu
- Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA
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17
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Rottmann D, Abdulfatah E, Pantanowitz L. Molecular testing of soft tissue tumors. Diagn Cytopathol 2023; 51:12-25. [PMID: 35808975 PMCID: PMC10084007 DOI: 10.1002/dc.25013] [Citation(s) in RCA: 8] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2022] [Accepted: 06/27/2022] [Indexed: 12/13/2022]
Abstract
BACKGROUND The diagnosis of soft tissue tumors is challenging, especially when the evaluable material procured is limited. As a result, diagnostic ancillary testing is frequently needed. Moreover, there is a trend in soft tissue pathology toward increasing use of molecular results for tumor classification and prognostication. Hence, diagnosing newer tumor entities such as CIC-rearranged sarcoma explicitly requires molecular testing. Molecular testing can be accomplished by in situ hybridization, polymerase chain reaction, as well as next generation sequencing, and more recently such testing can even be accomplished leveraging an immunohistochemical proxy. CONCLUSION This review evaluates the role of different molecular tests in characterizing soft tissue tumors belonging to various cytomorphologic categories that have been sampled by small biopsy and cytologic techniques.
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Affiliation(s)
- Douglas Rottmann
- Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA
| | - Eman Abdulfatah
- Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA
| | - Liron Pantanowitz
- Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA
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18
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Gitto L, Vandermeer T, Lubin DJ, Zaccarini DJ. Mesenteric desmoid fibromatosis entrapping metastatic urothelial carcinoma: a unique collision tumor or fibromatosis-like variant? SURGICAL AND EXPERIMENTAL PATHOLOGY 2022. [DOI: 10.1186/s42047-022-00114-w] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/10/2022] Open
Abstract
AbstractA collision tumor is a neoplastic lesion comprised of two or more distinct cell populations with distinct borders. Desmoid fibromatosis (DF) is a rare musculoaponeurotic tissue tumor that grows deep in the connective tissue and shows locally aggressive behavior. Only two cases of collision tumors with desmoid fibromatosis are reported in the English literature, albeit papillary thyroid carcinoma with desmoid fibromatosis-like stroma is regarded as a variant rather than a collision tumor. We present a unique case of collision tumor with desmoid fibromatosis surrounding intra-abdominal metastasis from urothelial carcinoma. A 65-year-old white male with history of bladder and left renal pelvis high-grade papillary urothelial carcinoma status post-nephrectomy was found to have a small bowel obstruction due to a soft tissue mass. Histology of the mass showed multiple matted lymph nodes with metastatic urothelial carcinoma admixed with a proliferation of spindle cells positive for nuclear beta-catenin, consistent with desmoid fibromatosis. While the prior surgical site likely acted as a nidus for development of desmoid fibromatosis, we also hypothesize that a dysregulation of beta-catenin signaling pathways within the cancer cells might have attributed to the spindle cell proliferation in the stroma surrounding the tumor. Our case emphasized the importance of clinical suspicion of desmoid fibromatosis in patients with metastatic cancer, requiring a prompt diagnosis and treatment to decrease the risk of complications and local recurrence.
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19
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Chen JC, Huang SC. Giant desmoid fibromatosis of the pancreas. Pediatr Neonatol 2022; 64:344-346. [PMID: 36376231 DOI: 10.1016/j.pedneo.2022.08.004] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2022] [Accepted: 08/16/2022] [Indexed: 11/06/2022] Open
Affiliation(s)
- Jeng-Chang Chen
- Department of Surgery, Chang Gung Children's Hospital, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan.
| | - Shih-Chiang Huang
- Department of Anatomical Pathology, Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan
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20
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Clarke-Brodber AL, Hartley CP, Ahmed F, Thangaiah JJ, Tiegs-Heiden C, Hagen CE. Desmoid fibromatosis involving the pancreas: A retrospective case series with clinical, cytopathologic and radiologic correlation. Ann Diagn Pathol 2022; 60:152015. [DOI: 10.1016/j.anndiagpath.2022.152015] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/24/2022] [Accepted: 07/17/2022] [Indexed: 11/01/2022]
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21
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Russell DH, Montgomery EA, Susnik B. Low to Intermediate (Borderline) Grade Breast Spindle Cell Lesions on Needle Biopsy: Diagnostic Approach and Clinical Management. Adv Anat Pathol 2022; 29:309-323. [PMID: 35838633 DOI: 10.1097/pap.0000000000000353] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022]
Abstract
Spindle cell proliferations of the breast are a heterogeneous group of lesions ranging from benign or reactive lesions to aggressive malignant neoplasms. Diagnosis on core biopsy can be particularly challenging as lesions displaying different lineages associated with variable outcomes share overlapping morphologies (scar vs. fibromatosis-like metaplastic carcinoma) whereas individual entities can exhibit a large variety of appearances (myofibroblastoma). In this review, lesions are grouped into lineage, when possible, including those showing fibroblastic/myofibroblastic differentiation, ranging from entities that require no additional management, such as scar and nodular fasciitis, to those with unpredictable clinical outcomes such as fibromatosis and solitary fibrous tumor or locally aggressive behavior such as dermatofibrosarcoma protuberans. The review of low-grade vascular lesions includes atypical vascular lesion and low-grade angiosarcoma. Also discussed are various adipocytic lesions ranging from lipoma to liposarcoma, and rare smooth muscle and neural entities more commonly encountered in locations outside the breast, such as leiomyoma, neurofibroma, schwannoma, or granular cell tumor. Optimal histological evaluation of these entities merges clinical and radiologic data with morphology and ancillary testing. We present our approach to immunohistochemical and other ancillary testing and highlight issues in pathology correlation with imaging. Recent updates in the management of breast spindle cell lesions are addressed. In a well-sampled lesion with radiographic concordance, the core biopsy diagnosis reliably guides management and we advocate the inclusion of management recommendations in the pathology report. Precise characterization using up to date guidelines is important to identify a subset of patients who may safely avoid unnecessary surgical procedures. A multidisciplinary approach with close collaboration with our clinical colleagues is emphasized.
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Affiliation(s)
- Daniel H Russell
- Departments of Pathology University of Miami Hospital and Jackson Health Systems, Miami, FL
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22
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Zhou MY, Bui NQ, Charville GW, Ghanouni P, Ganjoo KN. Current management and recent progress in desmoid tumors. Cancer Treat Res Commun 2022; 31:100562. [PMID: 35460976 DOI: 10.1016/j.ctarc.2022.100562] [Citation(s) in RCA: 19] [Impact Index Per Article: 6.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/25/2022] [Revised: 03/31/2022] [Accepted: 04/04/2022] [Indexed: 06/14/2023]
Abstract
Desmoid tumors are rare soft tissue tumors that can have aggressive infiltrative growth and relapse locally. Desmoid tumors can impact functionality and cause treatment-related morbidity and mortality. Here, the authors review current management strategies and avenues for further investigation. As part of the evolution of therapy away from primary surgical approaches to less invasive options, image-guided ablation has been accepted as less morbid and include cryoablation and high-intensity focused ultrasound. Systemic therapy options currently include hormonal agents, nonsteroidal anti-inflammatory drugs, tyrosine kinase inhibitors, and anthracycline-based regimens. Hormonal agents and nonsteroidal anti-inflammatory drugs have benign side effect profiles but generally limited efficacy. Anthracycline-based therapies are limited by the risk of secondary malignancies and cardiomyopathy. Tyrosine kinase inhibitors are well studied, and sorafenib is now one of the most utilized therapies, though limited by its side effect profile. Nirogacestat (PF-0308401) is an investigational small molecule gamma-secretase (GS) inhibitor that has demonstrated efficacy in phase 1 and II trials. A phase III trial investigating patients with desmoid tumors or aggressive fibromatosis is estimated to be completed December 2021 (NCT03785964). In addition to nirogacestat, the gamma-secretase inhibitor AL102 is being investigated for the treatment of patients with progressing desmoid tumors in the phase II/III RINGSIDE trial. Finally, the beta-catenin inhibitor Tegavivint (BC2059) is being investigated in a phase 1 open-label trial in patients with a proven primary or recurrent desmoid tumor that is unresectable and symptomatic or progressive.
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Affiliation(s)
- Maggie Y Zhou
- Department of Medicine, Stanford University School of Medicine, Stanford, CA
| | - Nam Q Bui
- Department of Medicine (Oncology), Stanford University School of Medicine, 875 Blake Wilbur Drive, Stanford, CA, 94305, USA
| | - Gregory W Charville
- Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA
| | - Pejman Ghanouni
- Department of Radiology, Stanford University School of Medicine, Stanford, CA
| | - Kristen N Ganjoo
- Department of Medicine (Oncology), Stanford University School of Medicine, 875 Blake Wilbur Drive, Stanford, CA, 94305, USA.
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23
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Zhao J, Cheng F, Yao Z, Zheng B, Niu Z, He W. Surgical Management of a Giant Desmoid Fibromatosis of Abdominal Wall With Vessels Invasion in a Young Man: A Case Report and Review of the Literature. Front Surg 2022; 9:851164. [PMID: 35478728 PMCID: PMC9037953 DOI: 10.3389/fsurg.2022.851164] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/09/2022] [Accepted: 02/24/2022] [Indexed: 11/13/2022] Open
Abstract
BackgroundDesmoid fibromatosis (DF) is a rare clonal proliferation of fibroblasts and myofibroblasts. It develops in the connective tissues and does not metastasize but may infiltrate adjacent structures. Because of the rarity of these tumors and the unpredictable natural history of the disease, well-defined and precise guidelines of the optimal treatment for DF have not been formulated.Case PresentationHere, we present a giant abdominal DF that invaded the right spermatic cord and iliac vessels. The lesion was excised with external iliac artery dissection; however, the vein was sacrificed. The abdominal wall defect was then repaired with a polypropylene mesh. The lesional cells are positive for β-catenin.ConclusionsIn the past decades, there has been a change in the treatment of DF. The “wait and see” policy has been considered initially in most cases. Surgical intervention remains a valid option for symptomatic lesions. The optimal regimes of the tumor should not take the risk of making the patient more symptomatic than the lesion itself.
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Affiliation(s)
- Jiming Zhao
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
| | - Fajuan Cheng
- Department of Nephrology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
- Department of Nephrology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
| | - Zhigang Yao
- Department of Pathology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
| | - Bin Zheng
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
| | - Zhihong Niu
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
| | - Wei He
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, China
- Department of Urology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China
- *Correspondence: Wei He orcid.org/0000-0002-4272-2891
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24
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Hua H, He Z, Lei L, Xie H, Deng Z, Cheng Z, Zuo S, Sun C, Yu C. Retroperitoneal Spindle Cell Tumor: A Case Report. Front Surg 2022; 8:764901. [PMID: 34977142 PMCID: PMC8714648 DOI: 10.3389/fsurg.2021.764901] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2021] [Accepted: 11/08/2021] [Indexed: 12/26/2022] Open
Abstract
Spindle cell tumor is very rare. Herein, we report a case of retroperitoneal spindle cell tumor in a 52-year-old female. The patient first presented with a complaint of persistent pain in the right upper abdomen. In the follow-up, a CT scan was performed and showed a retroperitoneal soft tissue density mass measuring 11 cm in diameter. Then, a subsequent operation was performed, and we completely removed the tumor and partially invaded lesions. The tumor was histologically diagnosed as a spindle cell tumor. Therefore, it is imperative for us to enhance the understanding of this seldom found tumor. Surgery remains the best option for treatment.
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Affiliation(s)
- Hao Hua
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zhiwei He
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Linhan Lei
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Huahua Xie
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zilei Deng
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Zili Cheng
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Shi Zuo
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Chengyi Sun
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
| | - Chao Yu
- Department of Hepatic-Biliary-Pancreatic Surgery, The Affiliate Hospital of Guizhou Medical University, Guiyang, China
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25
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Boyraz B, Hung YP. Spindle Cell Tumors of the Pleura and the Peritoneum: Pathologic Diagnosis and Updates. APMIS 2021; 130:140-154. [PMID: 34942046 DOI: 10.1111/apm.13203] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2021] [Accepted: 09/23/2021] [Indexed: 11/30/2022]
Abstract
A diverse group of both benign and malignant spindle cell tumors can involve the pleura or the peritoneum. Due to their rarity and overlapping morphologic features, these tumors can pose considerable diagnostic difficulty in surgical pathology. As these tumors differ in their prognosis and clinical management, their correct pathologic diagnosis is critical. In addition to histologic assessment, select immunohistochemical and molecular tools can aid the distinction among these tumors. In this review, we consider some of the major histologic differential diagnosis of spindle cell tumors involving these serosal membranes. This list of tumors includes: solitary fibrous tumor, inflammatory myofibroblastic tumor, desmoid fibromatosis, synovial sarcoma, sarcomatoid carcinoma, spindle cell melanoma, dedifferentiated liposarcoma, epithelioid hemangioendothelioma, and sarcomatoid mesothelioma. We describe their salient clinicopathologic and genetic findings, with a review on some of the recent discoveries on their molecular pathogenesis.
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Affiliation(s)
- Baris Boyraz
- Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
| | - Yin P Hung
- Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, United States of America
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26
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Brandao ICS, de Souza FS, de Amoreira Gepp R, Martins BJAF, de Mendonca Cardoso M, Sollaci C, da Cunha IW, Kalil RK. Neuromuscular Choristoma: Report of Five Cases With CTNNB1 Sequencing. J Neuropathol Exp Neurol 2021; 80:1068–1077. [PMID: 34718655 DOI: 10.1093/jnen/nlab106] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/12/2022] Open
Abstract
Neuromuscular choristoma (NMC) are lesions of the peripheral nervous system characterized by an admixture of skeletal muscle fibers and nerves fascicles that are frequently associated with desmoid fibromatosis (DF). Mutations in CTNNB1, the gene for β-catenin protein, are common in DF and related to its pathogenesis. They are restricted to exon 3, with 3 point mutations: T41A, S45F, and S45P. To understand the pathogenesis of NMC, we tested CTNNB1 status in 5 cases of NMC whether or not they were associated with DF. The screening of mutations in CTNNB1 gene was based on amplicon deep sequencing using the ION Proton platform. Three patients had the S45F mutation; in 2 the mutation was common to both lesions and in one the DF was wild type while the NMC had the S45F mutation. One patient had a T41A mutation in the NMC and no associated DF. In the last patient, the DF lesion had a T41A mutation; there was no lesion with the S45P mutation. The presence of similar CTNNB1 mutations in NMC/DF-associated lesions and sporadic DF reinforces the relationship between both lesions and points to a common pathogenic mechanism.
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Affiliation(s)
- Isabel Cristina Soares Brandao
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Francineide Sadala de Souza
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Ricardo de Amoreira Gepp
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Bernardo Jose Alves Ferreira Martins
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Marcio de Mendonca Cardoso
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Claudio Sollaci
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Isabela Werneck da Cunha
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
| | - Ricardo Karam Kalil
- From the Department of Surgical Pathology, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (ICSB, FSdS); Department of Neurosurgery, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (RdAG, MdMC); Department of Imaging, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (BJAFM); Department of Orthopedics, Sarah Network of Rehabilitation Hospitals, Brasília, DF, Brazil (CS); Department of Pathology, AC Camargo Cancer Center Rua Tamandaré, São Paulo, SP, Brazil (IWdC, RKK)
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Sethi S, Cody B, Farhat NA, Pool MD, Katabi N. Biphenotypic sinonasal sarcoma: Report of 3 cases with a review of literature. HUMAN PATHOLOGY: CASE REPORTS 2021; 24. [PMID: 34660202 PMCID: PMC8519506 DOI: 10.1016/j.ehpc.2021.200491] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
Abstract
Biphenotypic sinonasal sarcoma (BSNS) is a rare recently described distinct spindle cell sarcoma which arises exclusively in the sinonasal region and is characterized by concomitant neural and myogenic differentiation. Before this neoplasm was characterized, most were classified as other entities including adult fibrosarcoma, monophasic synovial sarcoma and malignant peripheral nerve sheath tumor. By immunohistochemistry, these tumors characteristically express S100 and smooth muscle actin (SMA) and/or muscle specific actin (MSA). Most cases harbor rearrangements of PAX3 (paired box gene 3), and the most frequent translocation partner is MAML3 (mastermind like transcriptional coactivator 3). Herein, we described three cases of BSNS involving the nasal cavity with or without paranasal sinus involvement. We also did a literature review of the clinical features, histologic and immunophenotypic findings, cytogenetics, pathogenesis and behavior of this rare entity.
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Affiliation(s)
- Shenon Sethi
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States
| | - Brittany Cody
- Department of Pathology, Rush University Medical Center, Chicago, IL 60612, United States
| | - Nada A Farhat
- Department of Pathology, New York Eye and Ear Infirmary of Mount Sinai, New York, NY 10003, United States
| | - Mark D Pool
- Department of Pathology, Rush University Medical Center, Chicago, IL 60612, United States
| | - Nora Katabi
- Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, United States
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28
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Gupta A, Batta NS, Batra V. Postoperative Recurrent Paraspinal Fibromatosis after Resection of Cervical Meningioma and Review of Literature. Indian J Radiol Imaging 2021; 31:514-518. [PMID: 34556942 PMCID: PMC8448242 DOI: 10.1055/s-0041-1734357] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/28/2022] Open
Abstract
The extra-abdominal deep fibromatoses also called as desmoid tumor (DT) are rare musculoaponeurotic, histologically benign tumoral soft tissue lesions which are locally aggressive with high rate of recurrence and no metastatic potential. Here, we describe a rare case of postoperative paraspinal fibromatosis in female child after aciurgy of intraspinal cervical meningioma. The lesion was incidentally detected in routine follow-up study and showed significant interval growth over a period of 1 year. Surgical resection was performed after histopathological confirmation; however, recurrence was observed. Hitherto only seven cases of postoperative paraspinal fibromatosis have been reported in the literature. To the best of authors' knowledge, this report is the first case of postoperative fibromatosis in cervical spine after resection of meningioma. The aim of the case report is to emphasize the clinical scenario for suspicion of fibromatosis, magnetic resonance imaging clues, and multidisciplinary treatment strategy which has shifted toward initial active surveillance.
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Affiliation(s)
- Ankur Gupta
- Department of Radiology, Mahajan Imaging, Sports Injury Centre, Vardhman Mahavir Medical College & Safdarjung Hospital, Delhi, India
| | - Nafisa S Batta
- Department of Radiology, Mahajan Imaging, Sports Injury Centre, Vardhman Mahavir Medical College & Safdarjung Hospital, Delhi, India
| | - Vikas Batra
- Department of Radiology, Mahajan Imaging, Sports Injury Centre, Vardhman Mahavir Medical College & Safdarjung Hospital, Delhi, India
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29
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Lin M, Song L, Qin S, Li D, Hou G, Li X. Plexiform fibromyxoma: Case report and literature review. Medicine (Baltimore) 2021; 100:e27164. [PMID: 34516510 PMCID: PMC8428745 DOI: 10.1097/md.0000000000027164] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/12/2020] [Accepted: 08/19/2021] [Indexed: 01/05/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a rare mesenchymal neoplasm which can be misdiagnosed as the gastrointestinal stromal tumor. This tumor almost formed a lobulated intramural/submucosal mass in the gastric antrum and prepyloric area. It was considered as a benign tumor that exhibited no recurrence, metastasis, or tumor-related mortality. In this study, we reported 2 cases of gastric PF. The first case was a PF patient coexisting with gastric adenocarcinoma. The second case occurred in the gastric upper body close to gastric fundus. They underwent distal gastrectomy and laparoscopic partial gastric resection, respectively. Both of them exhibited a plexiform growth pattern in the submucosa, muscularis propria, and subserosal adipose tissues. The nodules were composed of abundant myxoid or fibromyxoid matrix riching in small thin-walled blood vessels and bland-looking spindle cells. The first case partially showed staggered growth pattern of PF and adenocarcinoma. Immunohistochemically, the spindle cells were diffusely immunoreactive for SMA and vimentin, and focally immunoreactive for CD10. It was important to distinguish the PF from other spindle cell tumors involving the stomach.
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Affiliation(s)
- Min Lin
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Lu Song
- Department of Breast Surgery, Tai’an City Central Hospital, Tai’an, China
| | - Shuming Qin
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Daosheng Li
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Gang Hou
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
| | - Xiaomei Li
- Department of Pathology, Tai’an City Central Hospital, Tai’an, China
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30
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Davis JL, Rudzinski ER. Pediatric and Infantile Fibroblastic/Myofibroblastic Tumors in the Molecular Era. Surg Pathol Clin 2021; 13:739-762. [PMID: 33183731 DOI: 10.1016/j.path.2020.08.009] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/11/2022]
Abstract
Pediatric fibroblastic/myofibroblastic tumors are rare but include a wide variety of benign to malignant tumors. Given their uncommon frequency, they may present as a diagnostic dilemma. This article is focused on using clinical and pathologic clues in conjunction with the increasingly relevant and available molecular techniques to classify, predict prognosis, and/or guide treatment in these tumors.
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Affiliation(s)
- Jessica L Davis
- Department of Pathology, Oregon Health & Science University, L-471, Portland, OR 97239, USA.
| | - Erin R Rudzinski
- Department of Laboratories, Seattle Children's Hospital, OC.8.720, Seattle, WA 98105, USA
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31
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Slack JC, Bründler MA, Nohr E, McIntyre JB, Kurek KC. Molecular Alterations in Pediatric Fibroblastic/Myofibroblastic Tumors: An Appraisal of a Next Generation Sequencing Assay in a Retrospective Single Centre Study. Pediatr Dev Pathol 2021; 24:405-421. [PMID: 33970051 DOI: 10.1177/10935266211015558] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
Abstract
BACKGROUND Pediatric fibroblastic/myofibroblastic tumors (PFMTs) can be challenging to definitively classify. Large case series or diagnostic updates have not been recently published despite identification of molecular alterations that could improve diagnostic accuracy. Our review of the literature found that over two-thirds of the more than 30 types of PFMTs harbor recurrent molecular alterations. We performed an institutional review of PFMTs to highlight limitations of a predominantly morphological classification, and evaluated the utility of a next-generation sequencing assay to aid diagnosis. METHODS PFMTs identified over a period of 12 years were reviewed, categorized per the new WHO classification, and tested using the Oncomine Childhood Cancer Research Assay. RESULTS Eighty-seven specimens from 58 patients were reviewed; 50 were chosen for molecular analysis, 16 (32%) lacking definitive classification. We identified alterations, some novel, in 33% of assayed cases. Expected alterations were identified for most known diagnoses and mutations were identified in 6 of 16 tumors (38%) that were initially unclassified. CONCLUSION We confirmed a significant subset of PFMTs remain difficult to classify using current criteria, and that a combined DNA/RNA assay can identify alterations in many of these cases, improving diagnostic certainty and suggesting a clinical utility for challenging cases.
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Affiliation(s)
- Jonathan C Slack
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Marie-Anne Bründler
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
- Department of Pediatrics, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Erik Nohr
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
| | - John B McIntyre
- Precision Oncology Hub Laboratory, Tom Baker Cancer Centre, Department of Oncology, University of Calgary, Calgary, Alberta, Canada
| | - Kyle C Kurek
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
- Department of Genetics, Cumming School of Medicine, Calgary, Alberta, Canada
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32
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Choi JH, Ro JY. Mesenchymal Tumors of the Mediastinum: An Update on Diagnostic Approach. Adv Anat Pathol 2021; 28:351-381. [PMID: 34050062 DOI: 10.1097/pap.0000000000000306] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
Mesenchymal tumors of the mediastinum are a heterogenous group of rare tumors with divergent lineages. Mediastinal mesenchymal tumors are diagnostically challenging due to their diversity and morphologic overlap with nonmesenchymal lesions arising in the mediastinum. Accurate histologic diagnosis is critical for appropriate patient management and prognostication. Many mediastinal mesenchymal tumors affect distinct age groups or occur at specific mediastinal compartments. Neurogenic tumors, liposarcoma, solitary fibrous tumor, and synovial sarcoma are common mesenchymal tumors in the mediastinum. Herein, we provide an update on the diagnostic approach to mediastinal mesenchymal tumors and a review of the histologic features and differential diagnosis of common benign and malignant mesenchymal tumors of the mediastinum.
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Affiliation(s)
- Joon Hyuk Choi
- Department of Pathology, Yeungnam University College of Medicine, Daegu, South Korea
| | - Jae Y Ro
- Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Weill Medical College of Cornell University, Houston, TX
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33
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Park CG, Lee YN, Kim WY. Desmoid type fibromatosis of the distal pancreas: A case report. Ann Hepatobiliary Pancreat Surg 2021; 25:276-282. [PMID: 34053932 PMCID: PMC8180399 DOI: 10.14701/ahbps.2021.25.2.276] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/20/2020] [Accepted: 10/09/2020] [Indexed: 11/17/2022] Open
Abstract
A 23-year-old Korean female presented epigastric pain of two-months’ duration. She had a laparoscopic ovarian cyst excision 8 months previously. Clinical examination was normal. An abdominal computed tomogram (CT) demonstrated a 10-cm solid mass in the distal pancreas, with signs of splenic artery and vein occlusion, gastric and transverse colon invasion. Operative findings showed a mass involving distal pancreas, invasive to the posterior wall of the antrum of the stomach and transverse colon and 4th portion of the duodenum without lymph node involvement. The surgery consisted of a distal pancreatectomy, splenectomy and combined partial resection of the stomach, transverse colon and 4th portion of the duodenum. The immunohistochemistry and histopathological features were consistent with a confirmed diagnosis of intra-abdominal desmoid type fibromatosis (DTF). The prognosis of pancreatic DTF is not known and she showed no recurrence or distant metastasis during a 3 year follow-up. Herein we report a rare case with an isolated, sporadic, and non-trauma-related DTF, located at the pancreatic body and tail.
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Affiliation(s)
- Chan Gyun Park
- Department of Surgery, Presbyterian Medical Center, Jeonju, Korea
| | - Yu Ni Lee
- Department of Surgery, Presbyterian Medical Center, Jeonju, Korea
| | - Woo Young Kim
- Department of Surgery, Presbyterian Medical Center, Jeonju, Korea
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34
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Albokashy MS, Halawani MS, Eshky AT, Alsaad K, Khoja HA, Bawazir SM. Massive congenital cervicofacial desmoid-type fibromatosis in a 5-month-old infant. J Surg Case Rep 2021; 2021:rjab206. [PMID: 34055293 PMCID: PMC8159267 DOI: 10.1093/jscr/rjab206] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/23/2021] [Revised: 04/15/2021] [Accepted: 04/30/2021] [Indexed: 11/13/2022] Open
Abstract
Desmoid-type fibromatosis (DF) is a borderline tumor of soft tissues that has low malignant potential but described as infiltrative, locally aggressive and rapidly growing. In the pediatric population, it occurs in the head and neck. Presentation varies based on tumor size and location. Despite the high recurrence rate, surgical excision remains the modality of choice with. Here, we report a case of a 5-month-old boy, with extensive head and neck DF that was managed twice with conservative debulking surgery through a combined transoral-transcervical approach. On 2-year follow-up, he was gaining weight with no developmental delay and had no clinical evidence tumor regrowth.
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Affiliation(s)
- Mohammed S Albokashy
- Pediatric Division, Department of Otolaryngology/Head and Neck Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
| | - Mohammed S Halawani
- Pediatric Division, Department of Otolaryngology/Head and Neck Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
| | - Anoof T Eshky
- Pediatric Division, Department of Otolaryngology/Head and Neck Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
| | - Khalid Alsaad
- Department of Oral and Maxillofacial Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
| | - Hatim A Khoja
- Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
| | - Samir M Bawazir
- Pediatric Division, Department of Otolaryngology/Head and Neck Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia
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35
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An J, Woo HY, Lee Y, Kim HS, Jeong J, Kim SK. Clinicopathological features of 70 desmoid-type fibromatoses confirmed by β-catenin immunohistochemical staining and CTNNB1 mutation analysis. PLoS One 2021; 16:e0250619. [PMID: 33914771 PMCID: PMC8084228 DOI: 10.1371/journal.pone.0250619] [Citation(s) in RCA: 12] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2020] [Accepted: 04/10/2021] [Indexed: 12/02/2022] Open
Abstract
Desmoid-type fibromatosis (DF) is a locally aggressive neoplasm characterized by mutations in the CTNNB1 gene, which encodes the β-catenin protein. We reviewed 85 cases of DF and performed Sanger sequencing for detecting mutations in CTNNB1 and immunostaining for detecting β-catenin localization. We included 70 DF samples, of which 56 cases demonstrated nuclear β-catenin localization and 43 cases harboured CTNNB1 mutations. CTNNB1-mutant DF samples consistently displayed nuclear β-catenin expression and were derived from larger-sized tumours compared to samples with wild-type CTNNB1. When we further classified DF cases into 2 subgroups based on the type of specimen, excised specimens with nuclear β-catenin expression frequently displayed CTNNB1 mutation and no statistical correlation between nuclear β-catenin expression and CTNNB1 mutation was observed in biopsies. When we classified CTNNB1 mutation cases into 2 subgroups (DF with T41A or T41I, and DF with S45F or S45P), T41A or T41I mutations were observed more frequently in males than in females. Additionally, DF tumours harbouring S45F or S45P mutations were located more frequently in the abdominal wall than tumours with T41A or T41I mutations. In conclusion, CTNNB1 mutation correlates with nuclear β-catenin expression in larger or excised DF tumours, and DF harbouring CTNNB1 mutations manifest variable clinical presentations.
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Affiliation(s)
- Jiyeon An
- Department of Pathology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Ha Young Woo
- Department of Pathology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Younghan Lee
- Department of Radiology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Hyo Song Kim
- Division of Medical Oncology, Department of Internal Medicine Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
| | - Juhyeon Jeong
- Department of Pathology, Gachon University Gil Medical Center, Incheon, Republic of Korea
| | - Sang Kyum Kim
- Department of Pathology, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea
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36
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Yamada Y, Hirata M, Sakamoto A, Noguchi T, Ito K, Nishida Y, Matsuda S, Haga H. A comparison of the usefulness of nuclear beta-catenin in the diagnosis of desmoid-type fibromatosis among commonly used anti-beta-catenin antibodies. Pathol Int 2021; 71:392-399. [PMID: 33788979 DOI: 10.1111/pin.13096] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/27/2020] [Accepted: 03/08/2021] [Indexed: 11/29/2022]
Abstract
Desmoid-type fibromatosis (DF) is a locally aggressive but non-metastatic (myo)fibroblastic neoplasm. A hallmark of the tumor is nuclear positivity for beta-catenin in immunohistochemistry due mostly to CTNNB1 mutations. However, a recent study has reported that even beta-catenin 'nuclear-negative' DFs can harbor CTNNB1 mutations and that the positive ratio of nuclear beta-catenin in DF is different among antibodies. Here, we reviewed soft tissue lesions for which the possibility of DF was considered and compared the sensitivity and specificity of nuclear beta-catenin for the diagnosis of DF among commonly used anti-beta-catenin antibodies, i.e., clone beta-catenin 1, 17C2 and 14. We analyzed 26 cases of DF, 28 cases of benign fibroblastic lesions, and 27 cases of other soft tissue tumors. The sensitivity and specificity of nuclear beta-catenin for the diagnosis of DF were different among antibodies; 54% and 98% in clone beta-catenin 1, 85% and 84% in 17C2, and 96% and 62% in 14. IHC of LEF1 showed comparable results with IHC of beta-catenin, with a sensitivity of 88% and specificity of 76%. Additionally, when beta-catenin 1 was used, DFs showed characteristic dotted cytoplasmic staining, often appearing as rings. Our results might be helpful for making a correct diagnosis of DF.
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Affiliation(s)
- Yosuke Yamada
- Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan
| | - Masahiro Hirata
- Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan
| | - Akio Sakamoto
- Department of Orthopaedic Surgery, Kyoto University Hospital, Kyoto, Japan
| | - Takashi Noguchi
- Department of Orthopaedic Surgery, Kyoto University Hospital, Kyoto, Japan
| | - Kan Ito
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Aichi, Japan
| | - Yoshihiro Nishida
- Department of Rehabilitation, Nagoya University Hospital, Aichi, Japan
| | - Shuichi Matsuda
- Department of Orthopaedic Surgery, Kyoto University Hospital, Kyoto, Japan
| | - Hironori Haga
- Department of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan
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37
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Bakker A, Slack JC, Caragea M, Kurek KC, Bründler MA. Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis. Pediatr Dev Pathol 2021; 24:62-67. [PMID: 33104413 DOI: 10.1177/1093526620968807] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Gardner fibroma (GF) is a benign soft-tissue tumor that is associated with Gardner syndrome and can progress to, or co-occur with, desmoid fibromatosis (DF). Herein, we report a unique case of an 11-year-old boy who presented with a rapidly growing soft-tissue mass after biopsy of a stable fat-rich lesion present in the calf muscles since infancy, with Magnetic resonance imaging findings suggesting an intramuscular adipocytic tumor. The resection showed GF and DF. DF arising from a preexisting GF (the so-called "GF-DF sequence") is a well-documented phenomenon. Although immunohistochemistry was negative for nuclear β-catenin expression, a CTTNB1 S45F mutation, which has been associated with aggressive behavior in DF, was identified in both components using a next-generation sequencing-based molecular assay. This is the first time a mutation in CTNNB1 has been identified in GF and the GF-DF sequence, thus expanding our knowledge of the molecular pathogenesis of the GF-DF sequence and highlighting the role of molecular testing in pediatric soft-tissue tumors. The histologic findings of an adipocyte-rich intramuscular GF also are unique, expanding the morphological spectrum of GF and adding GF to the differential diagnosis of intramuscular lesions with an adipocytic component.
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Affiliation(s)
- Andrea Bakker
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Jonathan C Slack
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Mara Caragea
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Kyle C Kurek
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada.,Department of Genetics, Cumming School of Medicine, Calgary, Alberta, Canada
| | - Marie-Anne Bründler
- Department of Pathology and Laboratory Medicine, Cumming School of Medicine, Calgary, Alberta, Canada.,Department of Paediatrics, Cumming School of Medicine, Calgary, Alberta, Canada
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38
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Xu K, Zhao QK, Liu JS, Zhou DH, Chen YL, Zhu XY, Su M, Huang KQ, Du W, Zhao HY. Misdiagnosis of ligamentoid fibromatosis of the small mesenteric: A case report. World J Clin Cases 2020; 8:5758-5764. [PMID: 33344571 PMCID: PMC7716297 DOI: 10.12998/wjcc.v8.i22.5758] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/12/2020] [Revised: 09/18/2020] [Accepted: 10/01/2020] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Ligamentoid fibromatosis is a rare borderline tumor that occurs in the muscles, fascia, and aponeurosis. It is a kind of soft tissue tumor of fibrous origin, also known as invasive fibromatosis, desmoid fibroma, neurofibromatosis, etc. The tumor is between benign and malignant tumors and rarely has distant metastasis. Its characteristics are mainly local invasion, destruction and growth and easy recurrence. The World Health Organization defines it as a fibroblast cloning value-added lesion originating from deep soft tissue, which causes local invasion and growth leading to tissue reconstruction, extrusion and destruction of important structures and organs. The incidence rate accounts for 0.03% of all tumors and less than 3% of all soft tissue tumors. Definite diagnosis mainly depends on postoperative pathology. Surgical resection is still the main way to treat the disease, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence.
CASE SUMMARY The patient is a 57-year-old female. One week ago, she accidentally found a mass in the left upper abdomen while lying flat. There was no abdominal pain and abdominal distention, no fever, no black stool and blood in the stool and no nausea and vomiting. She had a 10-year history of glaucoma on the left side, underwent hysterectomy for uterine fibroids 5 years ago, had no hypertension, heart disease, diabetes, hepatitis or tuberculosis, had no history of smoking and had been drinking for 20 years.
CONCLUSION Accurate preoperative diagnosis is difficult, surgical resection is the main treatment, and a variety of nonsurgical treatment methods are auxiliary. Combined treatment can effectively reduce the risk of postoperative recurrence. The prognosis is still good, and the risk of recurrence of secondary surgery is greatly increased.
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Affiliation(s)
- Kai Xu
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Qi-Kang Zhao
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Jing-Shan Liu
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Dong-Hai Zhou
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Yong-Liang Chen
- Department of Hepatobiliary Surgery, Chinese People’s Liberation Army General Hospital, Beijing 100853, China
| | - Xing-Yi Zhu
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Ming Su
- Department of Hepatobiliary Surgery, Chinese People’s Liberation Army General Hospital, Beijing 100853, China
| | - Kun-Quan Huang
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Wen Du
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
| | - Hong-Yu Zhao
- Department of General Surgery, Shougang Hospital, Peking University, Beijing 100041, China
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Abnormal Presentation of Aggressive Fibromatosis After Radiotherapy for Keloids: Case Report and Brief Literature Review. Ann Plast Surg 2020; 83:104-107. [PMID: 30557185 DOI: 10.1097/sap.0000000000001675] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/05/2023]
Abstract
RATIONALE Keloids, dermal fibroproliferative lesions, often occur secondary to skin injury and extend beyond the margins of the original lesion. Aggressive fibromatosis (AF) is a rare condition arising from fibroblasts and is characterized clinically as a nonmetastasizing but locally invasive tumor. In this work, we present the case of a patient who developed AF in the chest 3 years after surgery and postoperative radiotherapy for keloids. PATIENT CONCERNS A 15-year-old female patient who underwent surgery and postoperative radiotherapy for keloids presented with AF in the chest 3 years after intervention. DIAGNOSES AND OUTCOMES Physical examination revealed a fan-shaped scar on the manubrium sterni with a radius of 7 cm, as well as a 9 (L) × 2-cm (W) longitudinal reddish and irregularly surfaced scar arising from previous incisions. By comparing this case with similar cases reported previously, we infer that a history of exposure to radiation is the main factor that contributes to the development of AF in patients suffering from keloid scars. We also discussed the clinical characteristics of AF and treatment options and suggest factors that should be considered when using radiotherapy in patients with keloids. LESSONS To our knowledge, this is the first reported case of AF developing in a patient after radiotherapy for keloids. Radiotherapy may be a causal factor of AF.
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Koike H, Hamada S, Sakai T, Shimizu K, Yoshida M, Nishida Y. Is tumour location a prognostic factor for pharmacological treatment in patients with desmoid-type fibromatosis? a systematic review. Jpn J Clin Oncol 2020; 50:1032-1036. [PMID: 32533161 DOI: 10.1093/jjco/hyaa078] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2020] [Accepted: 05/12/2020] [Indexed: 11/14/2022] Open
Abstract
BACKGROUND The mainstay of the treatment for desmoid-type fibromatoses has been shifting from surgery to drug treatment, making accurate prediction of the efficacy of drug treatment of extreme importance. On the other hand, desmoid-type fibromatoses arise everywhere in the body. The purpose of this systematic review was to address the clinical question of whether tumour location has an impact on the efficacy of drug treatment. METHODS A literature search from January 1990 to August 2017 was conducted. Four reviewers independently assessed and screened the literature for eligibility and determined the final articles. They rated each report according to the Grading of Recommendations Development and Evaluation approach. Based on the quality of 'Body of Evidence', our clinical guideline committee developed a recommendation for the clinical question. RESULTS In total, 128 articles were extracted. After the screenings, 5 were chosen for the final evaluation. The drugs used in these articles were one each of toremifene, sorafenib, and methotrexate and vinblastine and of meloxicam. There were no randomized controlled trials, and two prospective and three retrospective case series were included. Therapeutic effects were observed slightly more markedly in extremity using meloxicam or methotrexate and vinblastine. In contrast, the efficacy of toremifene was slightly higher in non-extremity. However, the evidence level of all of the reports was judged to be low. CONCLUSIONS Considering the low evidence level, we concluded that the site-specific therapeutic effects of drugs could not be confirmed in desmoid-type fibromatoses.
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Affiliation(s)
- Hiroshi Koike
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Shunsuke Hamada
- Department of Orthopedic Surgery, Aichi Cancer Center Hospital, Nagoya, Japan
| | - Tomohisa Sakai
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
| | - Koki Shimizu
- Department of Orthopedic Surgery, Tonokosei Hospital, Gifu, Japan
| | - Masahiro Yoshida
- Department of Hemodialysis and Surgery, Ichikawa Hospital, International University of Health and Welfare, Chiba, Japan
- Department of EBM and Guidelines, Japan Council for Quality Health Care, Tokyo, Japan
| | - Yoshihiro Nishida
- Department of Orthopedic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan
- Department of Rehabilitation Medicine, Nagoya University Hospital, Nagoya, Japan
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41
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Stone AB, Mallery JS, Stewart J, Amin K. A rare sporadic pancreatic desmoid fibromatosis diagnosed by endoscopic ultrasound-guided fine-needle aspiration: Case report and literature review. Diagn Cytopathol 2020; 49:E49-E54. [PMID: 32857922 DOI: 10.1002/dc.24580] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/01/2020] [Revised: 07/12/2020] [Accepted: 07/30/2020] [Indexed: 01/06/2023]
Abstract
Intra-abdominal desmoid fibromatosis (also known as desmoid tumor) is a rare benign but often locally aggressive infiltrative fibrous proliferation. Pancreatic desmoid fibromatosis is even rarer, with only 31 cases previously reported in the English-language literature. These tumors present a distinct diagnostic challenge due to their rarity and non-specific image findings and presentation, with most cases diagnosed as desmoid fibromatosis only after surgical resection. This report presents a rare case of pancreatic desmoid fibromatosis in a 72 year old man, who on a follow-up CT for a previously diagnosed angiomyolipoma of the kidney was found to have a 4.0 cm pancreatic tail mass. This was sampled pre-operatively by endoscopic ultrasound (EUS)-guided fine-needle aspiration (FNA). Examination of the cytology material showed a low-grade spindle cell lesion. Immunohistochemistry (IHC) performed on FNA cell block showed the lesional cells to be positive for beta-catenin, consistent with fibromatosis. Additional mutational analysis on cell block material revealed the characteristic CTNNB1 gene mutation (T41A), confirming the diagnosis. The mass was then surgically resected and again confirmed to be desmoid fibromatosis on histopathologic examination. On review of previously published cases of pancreatic desmoid fibromatosis, most were initially suspected to be some type of pancreatic neoplasm and were not biopsied prior to surgical resection. This case suggests a potential key role for fine-needle aspiration cytology in the preoperative diagnosis of pancreatic and other intra-abdominal desmoid tumors, particularly as evidence emerges that non-surgical treatment may be a viable first option for some cases.
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Affiliation(s)
- Andrew B Stone
- Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
| | - J Shawn Mallery
- Department of Medicine, Division of Gastroenterology, Hepatology, and Nutrition, University of Minnesota, Minneapolis, Minnesota, USA
| | - Jimmie Stewart
- Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
| | - Khalid Amin
- Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
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42
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Goto K, Ishikawa M, Aizawa D, Muramatsu K, Naka M, Sugino T. Nuclear β-catenin immunoexpression in scars. J Cutan Pathol 2020; 48:18-23. [PMID: 32652763 DOI: 10.1111/cup.13806] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/11/2020] [Revised: 06/11/2020] [Accepted: 07/01/2020] [Indexed: 11/28/2022]
Abstract
BACKGROUND Histopathologically, scars can mimic superficial fibromatoses. Superficial fibromatoses are known to show nuclear β-catenin immunoexpression, although the tumor types do not harbor CTNNB1 or APC alterations. This study aimed to evaluate nuclear β-catenin immunoexpression in scars compared to that in superficial fibromatoses. METHODS Immunostaining with an anti-β-catenin antibody, clone 14, was performed on 8 superficial fibromatoses and 22 scars. The extent of β-catenin nuclear staining was classified as negative (<10%), focally positive (10-49%), or diffusely positive (50-100%). β-catenin staining intensity was semi-quantitatively graded as weak, moderate, or strong. RESULTS In 21 (95%) scars, nuclear β-catenin immunoexpression was detected in fibroblasts/myofibroblasts, with mainly diffuse (16/21) and moderate (14/21) to strong (5/21) staining. In contrast, seven (88%) of the eight superficial fibromatoses expressed β-catenin in the nuclei of the lesional spindle cells, at varying levels of staining intensity. Fibroblasts in normal papillary dermis always showed nuclear β-catenin expression to varying degrees but those in the reticular dermis did not. CONCLUSIONS Scars typically exhibit nuclear β-catenin expression similar to that in superficial fibromatoses. Thus, β-catenin immunohistochemistry is not suitable for distinguishing superficial fibromatoses from scars.
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Affiliation(s)
- Keisuke Goto
- Department of Pathology, Tokyo Metropolitan Cancer and Infectious Disease Center Komagome Hospital, Tokyo, Japan.,Department of Pathology, Itabashi Central Clinical Laboratory, Tokyo, Japan.,Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan.,Department of Diagnostic Pathology and Cytology, Osaka International Cancer Institute, Osaka, Japan.,Department of Dermatology, Hyogo Cancer Center, Akashi, Japan
| | - Misawo Ishikawa
- Department of Diagnostic Pathology, Kainan Hospital, Yatomi, Japan
| | - Daisuke Aizawa
- Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan.,Department of Pathology, The Jikei University School of Medicine, Tokyo, Japan
| | - Koji Muramatsu
- Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan
| | - Miho Naka
- Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan
| | - Takashi Sugino
- Department of Diagnostic Pathology, Shizuoka Cancer Center Hospital, Sunto, Japan
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43
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Braggio D, Zewdu A, Londhe P, Yu P, Lopez G, Batte K, Koller D, Costas Casal de Faria F, Casadei L, Strohecker AM, Lev D, Pollock RE. β-catenin S45F mutation results in apoptotic resistance. Oncogene 2020; 39:5589-5600. [PMID: 32651460 PMCID: PMC7441052 DOI: 10.1038/s41388-020-1382-5] [Citation(s) in RCA: 20] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/07/2020] [Accepted: 06/25/2020] [Indexed: 12/21/2022]
Abstract
Wnt/β-catenin signaling is one of the key cascades regulating embryogenesis and tissue homeostasis; it has also been intimately associated with carcinogenesis. This pathway is deregulated in several tumors, including colorectal cancer, breast cancer, and desmoid tumors. It has been shown that CTNNB1 exon 3 mutations are associated with an aggressive phenotype in several of these tumor types and may be associated with therapeutic tolerance. Desmoid tumors typically have a stable genome with β-catenin mutations as a main feature, making these tumors an ideal model to study the changes associated with different types of β-catenin mutations. Here, we show that the apoptosis mechanism is deregulated in β-catenin S45F mutants, resulting in decreased induction of apoptosis in these cells. Our findings also demonstrate that RUNX3 plays a pivotal role in the inhibition of apoptosis found in the β-catenin S45F mutants. Restoration of RUNX3 overcomes this inhibition in the S45F mutants, highlighting it as a potential therapeutic target for malignancies harboring this specific CTNNB1 mutation. While the regulatory effect of RUNX3 in β-catenin is already known, our results suggest the possibility of a feedback loop involving these two genes, with the CTNNB1 S45F mutation downregulating expression of RUNX3, thus providing additional possible novel therapeutic targets for tumors having deregulated Wnt/β-catenin signaling induced by this mutation.
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Affiliation(s)
- Danielle Braggio
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA. .,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA.
| | - Abeba Zewdu
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | | | - Peter Yu
- Medical Student Research Program, The Ohio State University, Columbus, OH, 43210, USA
| | - Gonzalo Lopez
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | - Kara Batte
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | - David Koller
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | - Fernanda Costas Casal de Faria
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | - Lucia Casadei
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA
| | - Anne M Strohecker
- Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA.,Program in Molecular Biology and Cancer Genetics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA.,Department of Cancer Biology and Genetics, College of Medicine, The Ohio State University, Columbus, OH, 43210, USA
| | - Dina Lev
- Surgery B, Sheba Medical Center, Tel Aviv, Israel.,Tel Aviv University, Tel Aviv, Israel
| | - Raphael E Pollock
- Program in Translational Therapeutics, The James Comprehensive Cancer Center, The Ohio State University, Columbus, OH, 43210, USA. .,Department of Surgery, The Ohio State University, Columbus, OH, 43210, USA.
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Paulson VA, Stojanov IA, Wasman JK, Restrepo T, Cano S, Plunkitt J, Duraisamy S, Harris MH, Chute DJ, Al-Ibraheemi A, Church AJ. Recurrent and novel USP6 fusions in cranial fasciitis identified by targeted RNA sequencing. Mod Pathol 2020; 33:775-780. [PMID: 31827231 DOI: 10.1038/s41379-019-0422-6] [Citation(s) in RCA: 27] [Impact Index Per Article: 5.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2019] [Revised: 10/30/2019] [Accepted: 10/31/2019] [Indexed: 12/26/2022]
Abstract
Cranial fasciitis is a benign myofibroproliferative lesion of the scalp and underlying bones typically occurring in the pediatric population. Histologically, it is characterized by loose fascicles of stellate cells in a fibromyxoid background, findings similar to those described in the closely related variant nodular fasciitis. Previously characterized as a reactive process, the identification of USP6 translocations in over 90% of nodular fasciitis cases prompted their reclassification as a clonal neoplastic process. Unlike nodular fasciitis, the molecular underpinnings of cranial fasciitis are less clear. While a subset of cranial fasciitis has been associated with Wnt/β-catenin pathway dysregulation, recent case reports suggest that this entity may also harbor USP6 fusions, a finding we sought to further investigate. We identified fifteen archival cases of cranial fasciitis, five females and ten males ranging in age from 3 months to 9 years (median 11 months), composed of formalin-fixed paraffin-embedded and fresh frozen tissues (11 and 4 cases respectively). Samples were evaluated on an RNA-based targeted sequencing panel targeting genes recurrently rearranged in neoplasia, including USP6. Five of fifteen cases (33%) were positive for USP6 rearrangements predicted to result in the fusion of the entire USP6 coding region to the promoter of the 5' partner, (three of which were novel): two SERPINH1-USP6 (novel) and one each of COL3A1-USP6 (novel), SPARC-USP6, and MYH9-USP6. These results demonstrate the recurrent nature of USP6 rearrangements in cranial fasciitis, and highlight the success of targeted RNA sequencing in identifying known and novel fusion partners. The identification of USP6 promoter-swapping rearrangements is helpful in understanding the underlying biology of cranial fasciitis, and reinforces its biologic relationship to nodular fasciitis. Targeted RNA sequencing is a helpful tool in diagnosing this pseudosarcomatous lesion.
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Affiliation(s)
- Vera A Paulson
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA.,Department of Laboratory Medicine, University of Washington, Seattle, WA, USA
| | - Ivan A Stojanov
- Department of Oral and Maxillofacial Medicine and Department of Pathology, Case Western Reserve University, Cleveland, OH, USA
| | - Jay K Wasman
- Department of Pathology, Case Western Reserve University, Cleveland, OH, USA
| | - Tamara Restrepo
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA
| | - Samantha Cano
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA
| | - Joanna Plunkitt
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA
| | - Sekhar Duraisamy
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA
| | - Marian H Harris
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA
| | - Deborah J Chute
- Department of Pathology, Cleveland Clinic, Cleveland, OH, USA
| | | | - Alanna J Church
- Department of Pathology, Boston Children's Hospital, Boston, MA, USA.
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Rangunwala J, Sitta J, Prakash V, Vyas K, Roda M. Complex Case of Aggressive Intra-abdominal Desmoid-type Fibromatosis Status Post Cholecystectomy. Cureus 2020; 12:e7193. [PMID: 32269873 PMCID: PMC7137654 DOI: 10.7759/cureus.7193] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/05/2022] Open
Abstract
Desmoid-type fibromatosis (DF), also known as desmoid tumor, is an extremely rare, benign, mesenchymal fibrous tumor with no potential for metastasis. It can arise from any part of the body, most commonly extra-abdominally. Intra-abdominal DF can present sporadically, in sites of previous trauma, surgical scars and irradiation, or in association with familial adenomatous polyposis and Gardner syndrome. Intra-abdominal DF is uncommon and especially rare after a common surgery like cholecystectomy. We report a rare case of a 67-year-old male who presented with a locally aggressive intra-abdominal DF in the gallbladder fossa, status post cholecystectomy. This progressively enlarging infiltrative enhancing solid mass in the gallbladder fossa on serial computed tomography and magnetic resonance imaging demonstrated gastric outlet obstruction, biliary obstruction, portal vein narrowing and encasement of hepatic artery. Diagnosis of DF in this postoperative setting was delayed and challenging due to uncharacteristic clinical presentation. Radiologists should be aware of this unusual diagnosis and spectrum of imaging findings to help in timely surgical management and planning.
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Affiliation(s)
| | - Juliana Sitta
- Radiology, University of Mississippi Medical Center, Jackson, USA
| | - Varsha Prakash
- Pathology, University of Mississippi Medical Center, Jackson, USA
| | - Kshama Vyas
- Family Medicine, University of Mississippi Medical Center, Jackson, USA
| | - Manohar Roda
- Radiology, University of Mississippi Medical Center, Jackson, USA
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46
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Kumar SS, Rajeevan K, Devarajan E. Desmoid-Type Fibromatosis-Clinical Study of an Uncommon Disease. Indian J Surg Oncol 2020; 11:71-74. [PMID: 32205974 PMCID: PMC7064704 DOI: 10.1007/s13193-019-00985-8] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/22/2019] [Accepted: 09/11/2019] [Indexed: 10/25/2022] Open
Abstract
Desmoid-type fibromatosis is an uncommon disease which mimics sarcoma but is more locally aggressive but with less metastatic potential than sarcoma. Diagnosis is difficult and treatment protocols have changed to include more non-surgical options as compared with sarcoma. This is a retrospective study of the clinical presentation, imaging findings, treatment given, and outcomes of pathologically proven desmoid-type fibromatosis patients who presented to government medical college Kozhikode.
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Affiliation(s)
- Sreekanth S. Kumar
- Department of Surgical Oncology, Government Medical College Kozhikode, Kozhikode, 673008 India
| | - K. Rajeevan
- Department of Pathology, Government Medical College Kozhikode, Kozhikode, 673008 India
| | - E. Devarajan
- Department of Radiology, Government Medical College Kozhikode, Kozhikode, 673008 India
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47
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Zhou L, Xu H, Zhou J, Dong L, Zhang P, Yang X, Wang C. Nuclear TFE3 expression is a diagnostic marker for Desmoid-type fibromatosis. Diagn Pathol 2019; 14:34. [PMID: 31043173 PMCID: PMC6495536 DOI: 10.1186/s13000-019-0814-4] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/12/2018] [Accepted: 04/17/2019] [Indexed: 12/22/2022] Open
Abstract
BACKGROUND Desmoid-type fibromatosis (DTF) is a lesion characterized by clonal proliferation of myofibroblasts, which exhibits an infiltrative growth pattern. It is necessary for them to be distinguished from other fibroblastic and myofibroblastic lesions as well as spindle cell tumors. Altered Wnt signaling can act as a defining characteristic of DTF, with nuclear β-catenin serving as a diagnostic marker for. Transcription factor E3 (TFE3) has been linked to Wnt pathway activation and regulation, and may add value to the diagnosis of DTF. The present study, therefore, sought to assess whether TFE3 is a specific diagnostic marker for DTF. METHODS Nuclear TFE3 and β-catenin staining was performed on a wide range of tumor types such as DTF (n = 46), nodular fasciitis (n = 14), neurofibroma (n = 5), dermatofibrosarcoma protuberans (n = 5), gastrointestinal stromal tumor (n = 10), sclerosing epithelioid fibrosarcoma (n = 2), synovial sarcoma (n = 5), leiomyoma (n = 3) and cutaneous scar tissue (n = 4) using an immunohistochemical approach. In addition, the clinicopathological features and localization of these tumors were summarized. FISH assay was carried out to examine Xp11.2 translocations/TFE3 gene fusions. Statistical difference between immunohistochemical expression of TFE3 and β-catenin was analyzed. RESULTS The expression of nuclear TFE3 protein was found in 43 (93.5%) DTF tissue samples, ranging from moderate to intense expression levels. The distribution rates of TFE3 positivity in nodular fasciitis, gastrointestinal stromal tumor, leiomyoma and scar tissue samples were 42.9, 40, 25 and 33%, respectively. All studied samples of neurofibroma, synovial sarcoma, sclerosing epithelioid fibrosarcoma and dermatofibrosarcoma protuberans were negative for TFE3. CONCLUSIONS This study reveal that TFE3 has a potential to serve as a diagnostic marker capable of assisting in the differential diagnosis of DTF and other spindle cell lesions.
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Affiliation(s)
- Luting Zhou
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Haimin Xu
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Jun Zhou
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Lei Dong
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Peipei Zhang
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Xiaoqun Yang
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China
| | - Chaofu Wang
- Department of Pathology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, 200025, China.
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48
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Dioguardi Burgio M, Ronot M, Vilgrain V. Rare Solid Tumor of the Exocrine Pancreas: A Pictorial Review. Semin Ultrasound CT MR 2019; 40:483-499. [PMID: 31806147 DOI: 10.1053/j.sult.2019.04.007] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/13/2022]
Abstract
Numerous other solid primary neoplasms may arise from the pancreas besides primary ductal adenocarcinomas and neuroendocrine tumors. Although diagnosis can be difficult because of the very low incidence of these tumors, knowledge of several, typical, epidemiologic, biological, and imaging features can help obtain a correct diagnosis. This pictorial review describes the features of solid rare primary pancreatic neoplasms on computed tomography and magnetic resonance imaging focusing on characteristics that can help radiologists differentiate them from classical forms of ductal pancreatic adenocarcinoma and neuroendocrine tumors. Cystic pancreatic neoplasms are beyond the scope of the current review.
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Affiliation(s)
- Marco Dioguardi Burgio
- Department of Radiology, University Hospitals Paris Nord Val de Seine, Beaujon, Clichy, Hauts-de-Seine, France; INSERM U1149, Centre de Recherche Biomédicale Bichat-Beaujon, CRB3, Paris, France.
| | - Maxime Ronot
- Department of Radiology, University Hospitals Paris Nord Val de Seine, Beaujon, Clichy, Hauts-de-Seine, France; INSERM U1149, Centre de Recherche Biomédicale Bichat-Beaujon, CRB3, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Paris, France
| | - Valérie Vilgrain
- Department of Radiology, University Hospitals Paris Nord Val de Seine, Beaujon, Clichy, Hauts-de-Seine, France; INSERM U1149, Centre de Recherche Biomédicale Bichat-Beaujon, CRB3, Paris, France; University Paris Diderot, Sorbonne Paris Cité, Paris, France
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Wang W, Huang Y, Wang C, Hong J, Ma C, Lin N, Ye Z, Yan S, Wu H. Intra-articular nodular fasciitis: a rare lesion case report and an updated review of the literature. BMC Musculoskelet Disord 2019; 20:5. [PMID: 30611237 PMCID: PMC6320623 DOI: 10.1186/s12891-018-2375-1] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/22/2018] [Accepted: 12/07/2018] [Indexed: 01/04/2023] Open
Abstract
BACKGROUND Nodular fasciitis is a benign proliferation of myofibroblasts that usually arises in subcutaneous tissues of the trunk, neck, head, and upper extremities of young adults. It is not reported to arise in the joints. CASE PRESENTATION In this report, we describe a rare case where nodular fasciitis occurred in an intra-articular location in the right knee of a 20-year-old man. The patient presented with 3-months' duration of knee pain without history of trauma to the extremity. Physical examination revealed pain, joint effusion, and limited range of motion (ROM) of the affected knee. Magnetic resonance imaging (MRI) showed a 2.5 × 2 × 1 cm lesion in front of the posterior cruciate ligament. Arthroscopically, the soft tissue mass was removed and pathologically diagnosed as a rare, benign, intra-articular nodular fasciitis. Symptoms resolved 1 month after the operation and no recurrence was found at the 6 months follow-up. CONCLUSION The present paper describes detailed characteristics of intra-articular nodular fasciitis and provides an updated comprehensive summary of 21 prior case reports.
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Affiliation(s)
- Wei Wang
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China
| | - Yiting Huang
- Division of Reproductive Medicine & Infertility, The Second Affiliated Hospital, School of Medicine, Zhejiang University, 88#, Jiefang Rd., Hangzhou, Zhejiang, 310009, China
| | - Changxing Wang
- Department of Pathology, The Second Affiliated Hospital, School of Medicine, Zhejiang University, 88#, Jiefang Rd., Hangzhou, Zhejiang, 310009, China
| | - Jianqiao Hong
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China
| | - Chiyuan Ma
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China
| | - Nong Lin
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China
| | - Zhaoming Ye
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China
| | - Shiyuan Yan
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China.
| | - Haobo Wu
- Department of Orthopaedic Surgery, The Second Affiliated Hospital, Zhejiang University School of Medicine, No.88 Jiefang Road, Hangzhou, 310009, People's Republic of China.
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Davanzo B, Emerson RE, Lisy M, Koniaris LG, Kays JK. Solitary fibrous tumor. Transl Gastroenterol Hepatol 2018; 3:94. [PMID: 30603730 PMCID: PMC6286917 DOI: 10.21037/tgh.2018.11.02] [Citation(s) in RCA: 126] [Impact Index Per Article: 18.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/07/2018] [Accepted: 11/12/2018] [Indexed: 01/03/2023] Open
Abstract
Solitary fibrous tumor (SFT) is a rare tumor of mesenchymal origin that account for less than 2% of all soft tissue masses. Initially identified in the pleura, SFT has been identified in multiple anatomic locations and can arise anywhere in the body. The varying histologic features along with non-specific means of identification have led SFT to be associated with several different names. Over the last several decades, sustained advances through research and technology have led to more reliable methods for differentiating this distinct soft tissue tumor. Advances specifically in immunohistochemistry and molecular diagnostics have identified CD34 as the most consistent marker in SFT, however even this lacks specificity to conclusively narrow down the broad differential for exact identification. More recently the discovery of the NAB2-STAT6 fusion gene has led to more precise diagnosis of SFT. Like many other soft tissue tumors, surgical management is the mainstay of treatment for SFT with emphasis on obtaining tumor-negative margins. Radiation therapy and chemotherapy regimens have not demonstrated global effectiveness, and thus no standardized treatments have been identified. Given the rarity of SFT and current supportive evidence for therapies, management should be focused on tumor extirpation. Nonetheless, individualized therapy, determined within a multidisciplinary setting should be considered.
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Affiliation(s)
- Brian Davanzo
- Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Robert E. Emerson
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Megan Lisy
- Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Leonidas G. Koniaris
- Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Joshua K. Kays
- Department of Surgery, Indiana University School of Medicine, Indianapolis, IN, USA
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