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1
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Kővári BP, Lauwers GY. Mesenchymal Tumors of the Tubular Gastrointestinal Tract (Non-GIST): The GI Pathologist's Approach. Adv Anat Pathol 2025; 32:110-131. [PMID: 39588681 DOI: 10.1097/pap.0000000000000469] [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: 11/27/2024]
Abstract
Mesenchymal neoplasms of the gastrointestinal tract are rare compared with epithelial lesions. However, over the past few decades, the increasing volume of gastrointestinal endoscopy has expedited the recognition of several novel entities with varying clinical significance. Its spectrum extends from reactive changes and benign neoplasms to highly aggressive sarcomas. At the malignant end of the spectrum, the importance of correctly diagnosing these tumors is underscored by the specific therapeutic implications available for some tumor types (eg, tyrosine kinase inhibitors for gastrointestinal stromal tumors) that allow personalized treatments. Benign lesions frequently surface among routine polypectomy specimens, sometimes offering diagnostic challenges. However, precise classification is the only way to avoid prognostic uncertainty and overtreatment, and to recognize possible syndromic associations. Hereby, we offer a pragmatic review of the topic from the gastrointestinal pathologist's perspective, who, although more accustomed to epithelial neoplasms, can use an algorithmic approach to diagnose mesenchymal entities successfully.
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Affiliation(s)
- Bence P Kővári
- Department of Pathology, Mass General Brigham, Harvard Medical School, Boston, MA
| | - Gregory Y Lauwers
- Department of Pathology, Henry Lee Moffitt Cancer Center & Research Institute, Tampa, FL
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2
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Sidorov IV, Sharlai AS, Konovalov DM. [Gastric tumors with GLI1 gene alterations (plexiform fibromyxoma and gastroblastoma). Case report and literature review]. Arkh Patol 2025; 87:37-40. [PMID: 39943727 DOI: 10.17116/patol20258701137] [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: 05/09/2025]
Abstract
Plexiform fibromyxoma (PFM) and gastroblastoma (GB) are rare gastric tumors with a specific MALAT1::GLI1 rearrangement, included in the conditional spectrum of neoplasms with alterations of the GLI1 gene. The article presents a clinical case of PFM in a 6-year-old girl and a literature review highlighting current data on the morphology, immunophenotype and molecular genetic characteristics of PFM and GB. Despite the common genetic anomaly, differences in the morphology and clinical course of these tumors indicate the need for further research to clarify their relationship and potential reclassification in the light of new data on tumors with GLI1 gene abnormalities. Integrating the accumulated knowledge about tumors with GLI1 gene alterations into diagnostic algorithms and therapeutic approaches will help improve the treatment outcomes of patients with these rare neoplasms.
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Affiliation(s)
- I V Sidorov
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
| | - A S Sharlai
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
| | - D M Konovalov
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia
- Russian Medical Academy of Continuous Professional Education, Moscow, Russia
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3
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Prasad AS, Shanbhogue KP, Ramani NS, Balasubramanya R, Surabhi VR. Non-gastrointestinal stromal tumor, mesenchymal neoplasms of the gastrointestinal tract: a review of tumor genetics, pathology, and cross-sectional imaging findings. Abdom Radiol (NY) 2024; 49:1716-1733. [PMID: 38691132 DOI: 10.1007/s00261-024-04329-1] [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: 02/16/2024] [Revised: 04/01/2024] [Accepted: 04/02/2024] [Indexed: 05/03/2024]
Abstract
There is a diverse group of non-gastrointestinal stromal tumor (GIST), mesenchymal neoplasms of the gastrointestinal (GI) tract that demonstrate characteristic pathology and histogenesis as well as variable imaging findings and biological behavior. Recent advancements in tumor genetics have unveiled specific abnormalities associated with certain tumors, influencing their molecular pathogenesis, biology, response to treatment, and prognosis. Notably, giant fibrovascular polyps of the esophagus, identified through MDM2 gene amplifications, are now classified as liposarcomas. Some tumors exhibit distinctive patterns of disease distribution. Glomus tumors and plexiform fibromyxomas exhibit a pronounced affinity for the gastric antrum. In contrast, smooth muscle tumors within the GI tract are predominantly found in the esophagus and colorectum, surpassing the incidence of GISTs in these locations. Surgical resection suffices for symptomatic benign tumors; multimodality treatment may be necessary for frank sarcomas. This article aims to elucidate the cross-sectional imaging findings associated with a wide spectrum of these tumors, providing insights that align with their histopathological features.
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Affiliation(s)
| | | | - Nisha S Ramani
- Department of Pathology, Michael E. DeBakey VA Medical Center, Houston, USA
| | | | - Venkateswar R Surabhi
- Department of Abdominal Imaging, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1473, Houston, TX, 77030, USA.
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4
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Di Mauro A, Rega RA, Leongito M, Albino V, Palaia R, Gualandi A, Belli A, D’Arbitrio I, Moccia P, Tafuto S, De Chiara A, Ottaiano A, Ferrara G. Plexiform Fibromyxoma in the Stomach: Immunohistochemical Profile and Comprehensive Genetic Characterization. Int J Mol Sci 2024; 25:4847. [PMID: 38732067 PMCID: PMC11084853 DOI: 10.3390/ijms25094847] [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: 04/02/2024] [Revised: 04/22/2024] [Accepted: 04/24/2024] [Indexed: 05/13/2024] Open
Abstract
Plexiform fibromyxoma (PF), also referred to as plexiform angiomyxoid myofibroblast tumor, is an exceedingly rare mesenchymal neoplasm primarily affecting the stomach. Herein, we present a case of PF diagnosed in a 71-year-old male with a history of lung cancer, initially suspected to have a gastrointestinal stromal tumor (GIST) of the stomach, who subsequently underwent subtotal gastrectomy. The histopathological and molecular features of the tumor, including mutations in ABL1, CCND1, CSF1R, FGFR4, KDR, and MALAT1-GLI1 fusion, are elucidated and discussed in the context of diagnostic, prognostic, and therapeutic considerations.
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Affiliation(s)
- Annabella Di Mauro
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Rosalia Anna Rega
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Maddalena Leongito
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Vittorio Albino
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Raffaele Palaia
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Alberto Gualandi
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Andrea Belli
- Department of Gastro-Hepato-Pancreato-Biliary Surgery, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (M.L.); (V.A.); (R.P.); (A.B.)
| | - Imma D’Arbitrio
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Pasquale Moccia
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
| | - Salvatore Tafuto
- Sarcomas and Rare Tumors Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Annarosaria De Chiara
- Histopathology of Lymphomas and Sarcomas SSD, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Alessandro Ottaiano
- Division of Innovative Therapies for Abdominal Metastases, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Naples, Italy;
| | - Gerardo Ferrara
- Pathology Unit, Istituto Nazionale Tumori, IRCCS Fondazione “G. Pascale”, 80131 Napoli, Italy; (R.A.R.); (A.G.); (I.D.); (P.M.); (G.F.)
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5
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Bugeda Gómez P, Costa-Roig A, Montecino Romanini C, Miró Rubio I, Guindos Rúa S, Lara Cárdenas DC, Germani M, Roca Roca M, Romagosa Pérez Portabella C, Garrido Pontnou M, Hernández Losa J, Sanchís Solera LF. Pediatric Plexiform Fibromyxoma: A Case Report. J Pediatr Hematol Oncol 2024; 46:e251-e253. [PMID: 38408159 PMCID: PMC10956666 DOI: 10.1097/mph.0000000000002833] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/12/2023] [Accepted: 01/19/2024] [Indexed: 02/28/2024]
Abstract
The plexiform fibromyxoma is a rare mesenchymal tumor in adults that generally originates in the antrum of stomach, being its occurrence in pediatric patients exceptional. It was classified as a distinct entity by World Health Organization in 2010. No recurrences and metastases have been documented in many of the reported patients to date, being the surgical treatment curative. We report the case of a 3-month-old infant who presented to the emergency department with an episode of intestinal subocclusion requiring an emergent surgery. During the surgical intervention, a mass was identified in the jejunum, causing partial occlusion of its lumen. The surgical pathology report revealed an infiltrative tumor composed of spindle-shaped cells disposed in a stroma with a plexiform pattern alternating myxoid areas. These findings and the immunohistochemical characteristics of the neoplastic cells led to classify the tumor as a plexiform fibromyxoma. A description of the immunophenotype of this tumor is made and differential diagnosis with other gastrointestinal tumors is also discussed.
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Affiliation(s)
| | | | - Carolina Montecino Romanini
- Department of Pathology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
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6
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Perry L, McCann C, Schwartz J, Gott M, Senatore P, Slotman G. Plexiform Angiomyxoid Myofibroblastic Tumor of the Stomach. Am Surg 2023; 89:145-146. [PMID: 33125278 DOI: 10.1177/0003134820951487] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/06/2023]
Affiliation(s)
- Luke Perry
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
| | - Charles McCann
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
| | - Jandie Schwartz
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
| | - Melissa Gott
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
| | - Peter Senatore
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
| | - Gus Slotman
- Department of Surgery, Inspira Health Network, Vineland, NJ, USA
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7
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Xia Z, Zhou Z, Guo W, Wang H, Wang F, Zhou F. Endoscopic submucosal excavation for gastric plexiform fibromyxoma: A case report and systematic review of literature. Front Oncol 2023; 13:1090259. [PMID: 37035143 PMCID: PMC10080140 DOI: 10.3389/fonc.2023.1090259] [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: 11/05/2022] [Accepted: 03/13/2023] [Indexed: 04/11/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a rare mesenchymal tumor of which the pathogenesis and molecular changes are still unclear. Histologically, it is characterized by a cluster of bland spindle or ovoid cells growing in the mucoid or fibromyxoid stroma rich in small blood vessels. At present, surgical resection is the primary treatment for PF.
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Affiliation(s)
- Ziqin Xia
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Zhidai Zhou
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Wei Guo
- Department of Pathology, Zhongnan Hospital of Wuhan University, Wuhan, China
| | - Hongling Wang
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Fan Wang
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
| | - Feng Zhou
- Department of Gastroenterology, Zhongnan Hospital of Wuhan University, Hubei Clinical Center and Key Laboratory for Intestinal and Colorectal Diseases, Wuhan, China
- *Correspondence: Feng Zhou,
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8
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Argani P, Boyraz B, Oliva E, Matoso A, Gross J, Fridman E, Zhang L, Dickson BC, Antonescu CR. GLI1 Gene Alterations in Neoplasms of the Genitourinary and Gynecologic Tract. Am J Surg Pathol 2022; 46:677-687. [PMID: 34907995 PMCID: PMC9018467 DOI: 10.1097/pas.0000000000001844] [Citation(s) in RCA: 22] [Impact Index Per Article: 7.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
We report 4 neoplasms of the kidney (2 cases) and uterus (2 cases) harboring rearrangements or amplifications of the GLI1 gene, which because of their unusual clinical presentation, morphology, and immunoprofile mimicked other neoplasms, causing significant diagnostic challenge. The neoplasms occurred in 4 female patients ages 33 to 88 years. Histologically they all demonstrated nodular growth, solid architecture, bland epithelioid to ovoid-spindle cells with pale cytoplasm set in a variably myxoid or hyalinized stroma. One uterine tumor also demonstrated a focal round cell pattern, while another demonstrated focal pleomorphism. Unlike most previously reported neoplasms with these genetic abnormalities, the neoplasms in the current series were negative for S100 protein and minimally reactive for actin. All labeled for CD10 and cyclin D1, while 2 labeled for estrogen receptor and BCOR and 1 labeled for desmin, raising consideration of endometrial stromal sarcoma, myxoid leiomyosarcoma, metastatic breast carcinoma, and glomus tumor. One renal neoplasm demonstrated a GLI1-FOXO4 gene fusion and the other harbored a GLI1 gene rearrangement (unknown partner). The 2 uterine neoplasms exhibited GLI1 gene amplifications. GLI1-altered neoplasms (particularly those with GLI1 amplification) show variable morphology and lack a consistent immunophenotype, and thus may trigger diagnostic challenges which can be resolved by molecular testing.
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Affiliation(s)
- Pedram Argani
- Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
- Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
| | - Baris Boyraz
- Department of Pathology, Massachusetts General Hospital, Boston, MA
| | - Esther Oliva
- Department of Pathology, Massachusetts General Hospital, Boston, MA
| | - Andres Matoso
- Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
- Department of Oncology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
- Department of Urology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
| | - John Gross
- Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
- Department of Orthopedics, The Johns Hopkins Medical Institutions, Baltimore, MD, USA
| | - Eddie Fridman
- Department of Pathology, Chaim Sheba Medical Center, Ramat Gan, Israel
| | - Lei Zhang
- Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, NY
| | - Brendan C. Dickson
- Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
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9
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Harvey JJ, P'Ng CH, Pleass H. Not What You Think? Gastroenterology 2022; 162:e8-e9. [PMID: 34536453 DOI: 10.1053/j.gastro.2021.09.027] [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: 08/27/2021] [Accepted: 09/13/2021] [Indexed: 12/02/2022]
Affiliation(s)
- John Julian Harvey
- Department of Interventional Radiology, Westmead Hospital, Westmead, New South Wales, Australia.
| | - Chow Heok P'Ng
- Department of Tissue Pathology and Diagnostic Oncology, Institute of Cellular Pathology and Molecular Research, Westmead Hospital, Westmead, New South Wales, Australia
| | - Henry Pleass
- Department of Surgery, Westmead Hospital, Westmead, New South Wales, Australia; Specialty of Surgery, Faculty of Medicine and Health, University of Sydney, Sydney, Australia
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10
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Higashi M, Hamada T, Sasaki K, Tsuruda Y, Shimonosono M, Kitazono I, Kirishima M, Tasaki T, Noguchi H, Tabata K, Hisaoka M, Fukukura Y, Ohtsuka T, Tanimoto A. Esophageal plexiform fibromyxoma: A case report with molecular analysis for MALAT1-GLI1 fusion. Pathol Res Pract 2022; 233:153878. [DOI: 10.1016/j.prp.2022.153878] [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: 02/25/2022] [Revised: 03/30/2022] [Accepted: 04/01/2022] [Indexed: 02/07/2023]
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11
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Zhang R, Xia LG, Huang KB, Chen ND. Huge gastric plexiform fibromyxoma presenting as pyemia by rupture of tumor: A case report. World J Clin Cases 2022; 10:2253-2260. [PMID: 35321180 PMCID: PMC8895193 DOI: 10.12998/wjcc.v10.i7.2253] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/09/2021] [Revised: 10/25/2021] [Accepted: 01/22/2022] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare mesenchymal tumor, with limited case reports worldwide. Common clinical symptoms are abdominal discomfort and bleeding signs, which frequently present slow-onset in reported cases. Herein, we report a case of gastric PF presenting as acute onset and with pyemia accom-panying tumor rupture. We resected the tumor as well as the distal gastric, bulbus duodeni and gallbladder for treatment in emergency surgery. Notably, before the onset of the disease, the patient received coronavirus disease 2019 (COVID-19) vaccines.
CASE SUMMARY A 26-year-old man was admitted to our hospital, due to abdominal pain and fever after having received COVID-19 vaccines. Laboratory examination indicated severe sepsis. Computed tomography scan revealed a large mass in the abdomen. Deformation of the gastrointestinal tract was seen during gastroscopy. After failure of anti-infective treatment and symptoms of shock developed, he received an emergency surgery. We found a huge and partly ruptured mass, with thick purulence. Microscopically, the mass was composed of spindle cells with clarified cytoplasm, accompanied by myxoid stroma and arborizing blood vessels. Immunohistochemistry showed the tumor cells as positive for smooth muscle actin and succinate dehydrogenase subunit B but negative for DOG-1 and CD117. Finally, the patient was diagnosed with gastric PF and discharged from the hospital.
CONCLUSION Gastric PF manifesting as tumor rupture combined with pyemia is rare. Timely surgery is critical for optimal prognosis.
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Affiliation(s)
- Rui Zhang
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Li-Gang Xia
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Kai-Bin Huang
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
| | - Nan-Di Chen
- The Second Clinical Medical College, Shenzhen People’s Hospital, Jinan University, Shenzhen 518020, Guangdong Province, China
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12
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Rahi H, Olave MC, Fritchie KJ, Greipp PT, Halling KC, Kipp BR, Graham RP. Gene Fusions in Gastrointestinal Tract cancers. Genes Chromosomes Cancer 2022; 61:285-297. [PMID: 35239225 DOI: 10.1002/gcc.23035] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/02/2021] [Revised: 02/24/2022] [Accepted: 02/25/2022] [Indexed: 11/10/2022] Open
Abstract
Fusion genes have been identified a wide array of human neoplasms including hematologic and solid tumors, including gastrointestinal tract neoplasia. A fusion gene is the product of parts of two genes which are joined together following a deletion, translocation or chromosomal inversion. Together with single nucleotide variants, insertions, deletions, and amplification, fusion genes represent one of the key genomic mechanisms for tumor development. Detecting fusions in the clinic is accomplished by a variety of techniques including break-apart fluorescence in situ hybridization (FISH), reverse transcription-polymerase chain reaction (RT-PCR), and next-generation sequencing (NGS). Some recurrent gene fusions have been successfully targeted by small molecule or monoclonal antibody therapies (i.e. targeted therapies), while others are used for as biomarkers for diagnostic and prognostic purposes. The purpose of this review article is to discuss the clinical utility of detection of gene fusions in carcinomas and neoplasms arising primarily in the digestive system. This article is protected by copyright. All rights reserved.
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Affiliation(s)
- Hamed Rahi
- Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, USA
| | - Maria C Olave
- Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA
| | - Karen J Fritchie
- Division of Anatomic Pathology, Cleveland Clinic, Cleveland, OH, USA
| | - Patricia T Greipp
- Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, USA
| | - Kevin C Halling
- Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.,Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA
| | - Benjamin R Kipp
- Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.,Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA
| | - Rondell P Graham
- Division of Laboratory of Genetics and Genomics, Mayo Clinic, Rochester, MN, USA.,Division of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA
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13
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Gong EJ, Yang YJ, Han SH, Bang CS. Gastric Plexiform Fibromyxoma Incidentally Found in the Routine Checkup. THE KOREAN JOURNAL OF GASTROENTEROLOGY 2022. [DOI: 10.4166/kjg.2022.019] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 11/03/2022]
Affiliation(s)
- Eun Jeong Gong
- Department of Internal Medicine, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea
| | - Young Joo Yang
- Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea
| | - Sang Hak Han
- Department of Pathology, Hallym University College of Medicine, Chuncheon, Korea
| | - Chang Seok Bang
- Department of Internal Medicine, Hallym University College of Medicine, Chuncheon, Korea
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14
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Agaimy A. [Mesenchymal tumors and tumor-like lesions of the gastrointestinal tract: an overview]. DER PATHOLOGE 2022; 43:31-44. [PMID: 34919183 DOI: 10.1007/s00292-021-01040-6] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 11/15/2021] [Indexed: 06/14/2023]
Abstract
Mesenchymal tumors and tumor-like lesions of the gastrointestinal (GI) tract are uncommon. They vary from reactive tumefactive lesions and benign neoplasms to highly aggressive sarcomas. Among them, GI stromal tumors (GISTs) are most common, followed, with less frequency, by smooth muscle and neurogenic tumors. The major challenge resides in correctly identifying GISTs and providing a comprehensive report (including risk assessment and genotyping) that represents the basis for an optimized surgical-oncological treatment and/or adjuvant therapy. On the other hand, the challenge of benign lesions is to find a good name (well understandable and reproducible diagnostic term) that helps avoid diagnostic ambiguity and prognostic uncertainty so that overprognostication and overtreatment can be prevented. Moreover, several recently described genetically defined benign and malignant entities need be correctly diagnosed due to their special "targeted" therapeutic options and to further characterize their clinicopathological and biological properties in the future. These recent entities include aggressive epithelioid inflammatory myofibroblastic sarcoma (ALK-RANBP2-driven), malignant gastrointestinal neuroectodermal tumor (EWSR1-ATF1/CREB-related), NTRK-rearranged neoplasms, and, most recently, colorectal NUTM1-rearranged sarcomas. This review highlights the major clinicopathological features of gastrointestinal mesenchymal lesions in light of recent developments.
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Affiliation(s)
- Abbas Agaimy
- Pathologisches Institut, Universitätsklinikum Erlangen, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
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15
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Mitra S, Paramaguru R, Das P, Katti SV. Preneoplastic Lesions and Polyps of the Gastrointestinal Tract. SURGICAL PATHOLOGY OF THE GASTROINTESTINAL SYSTEM 2022:593-698. [DOI: 10.1007/978-981-16-6395-6_16] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/05/2025]
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16
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Wardelmann E, Kuntze A, Trautmann M, Hartmann W. [Abdominal soft tissue tumors]. PATHOLOGIE (HEIDELBERG, GERMANY) 2022; 43:42-49. [PMID: 36222918 PMCID: PMC9758248 DOI: 10.1007/s00292-022-01128-7] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Accepted: 09/06/2022] [Indexed: 11/05/2022]
Abstract
Gastrointestinal stromal tumors are the most common mesenchymal tumors in the abdomen and occur in Germany with an incidence of 10 to 15 cases per million inhabitants. Clear identification and characterization are of major importance for the prognosis and therapy of patients. Similarly, they have to be differentiated from other mesenchymal neoplasias such as leiomyomatous, neurogenic, adipocytic, and fibroblastic tumors. Additionally, the number of translocation positive neoplasias is increasing, requiring the use of adequate molecular assays. The aim of this paper is to give practical advice for their identification. Reference pathology is one possibility to support the correct diagnosis.
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Affiliation(s)
- Eva Wardelmann
- grid.16149.3b0000 0004 0551 4246Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149 Münster, Deutschland
| | - Anna Kuntze
- grid.16149.3b0000 0004 0551 4246Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149 Münster, Deutschland
| | - Marcel Trautmann
- grid.16149.3b0000 0004 0551 4246Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149 Münster, Deutschland
| | - Wolfgang Hartmann
- grid.16149.3b0000 0004 0551 4246Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149 Münster, Deutschland
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Ayyanar P, Nayak HK, Samal SC, Kar M, Mishra P, Patra S. Recurrent plexiform angiomyxoid myofibroblastic tumour (PAMT) of the stomach with aggressive behaviour. Pathology 2021; 54:650-654. [PMID: 34865869 DOI: 10.1016/j.pathol.2021.09.010] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2021] [Revised: 09/05/2021] [Accepted: 09/14/2021] [Indexed: 01/30/2023]
Affiliation(s)
- Pavithra Ayyanar
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Hemanta Kumar Nayak
- Department of Medical Gastroenterology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Subash Chandra Samal
- Department of Medical Gastroenterology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Madhabananda Kar
- Department of Surgical Oncology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Pritinanda Mishra
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
| | - Susama Patra
- Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
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18
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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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19
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Wu JD, Chen YX, Luo C, Xu FH, Zhang L, Hou XH, Song J. Plexiform angiomyxoid myofibroblastic tumor treated by endoscopic submucosal dissection: A case report and review of the literature. World J Gastroenterol 2021; 27:5288-5296. [PMID: 34497451 PMCID: PMC8384752 DOI: 10.3748/wjg.v27.i31.5288] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 03/22/2021] [Revised: 06/08/2021] [Accepted: 07/26/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a rare mesenchymal tumor characterized by multiple nodular plexiform growth patterns and an immunophenotype with myofibroblasts. The pathological characteristics, immunohistochemistry, diagnostic criteria, differential diagnosis, and gene-level changes of PAMT have been reported in many studies. At present, the main treatment for PAMT in the reported cases is surgery; only eight cases were treated via endoscopy (excluding 1 thoracoscopic resection), and the lesions were all smaller than 5 cm. There are no reports on the prognosis and follow-up of young patients with lesion sizes reaching 5 cm who undergo endoscopic submucosal dissection (ESD). Herein, we present the first case of a young patient with a lesion size reaching 5 cm who was diagnosed with PAMT via endoscopic submucosal dissection. CASE SUMMARY A 15-year-old young man with upper abdominal pain for 2 years presented to the Gastroenterology Department of our hospital. Painless gastroscopy showed a semicircular bulge approximately 5 cm in size in the lesser curvature near the cardia of the fundus; the surface was eroded, and shallow ulcers had formed. The pathological manifestations of the biopsy were spindle cell proliferative lesions with interstitial mucinous changes, and the surface mucosa showed chronic inflammatory changes with active lesions; immunohistochemistry showed smooth muscle actin (SMA) (+), CD117 (-), CD34 (-), DOG-1 (-), S-100 (-), and Ki67 (LI: < 1%). We performed ESD on the patient. The lesion that we removed was 5 cm × 4 cm × 2 cm in size. Pathologically, the resected tissue displayed typical manifestations, such as fat spindle-shaped fibroblasts and myofibroblast-like cells showing irregular nodular hyperplasia. Immunohistochemistry staining of the tumor cells revealed the following: CD34 (partially +), SMA (weakly +), CD117 (-), DOG-1 (-), S-100 (-), SDHB (+), PCK (-), and Ki67 (labelling index: 2%). There was no recurrence or metastasis during the 3-mo follow-up after the operation, and the treatment effect was good. We also performed a review of the literature on the clinical manifestations, pathological features, immunohistochemistry, and differential diagnosis of PAMT. CONCLUSION At present, the diagnostic criteria for PAMT are relatively clear, but the pathogenesis and genetic changes require further study. PAMT is benign in nature, and these patients are less likely to experience local or metastatic recurrence. The main treatment is still surgery if the lesion is in the stomach. Partial gastrectomy and distal gastrectomy are the most frequently performed surgical treatments for PAMT, followed by local resection, subtotal gastrectomy, and wedge resection. But for comprehensive evaluation of the disease, ESD can be considered a suitable method to avoid excessive treatment.
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Affiliation(s)
- Jian-Di Wu
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Yi-Xiong Chen
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Chang Luo
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Feng-Hua Xu
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Lei Zhang
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Xiao-Hua Hou
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
| | - Jun Song
- Division of Gastroenterology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, Hubei Province, China
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20
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Ma S, Wang J, Lu Z, Shi C, Yang D, Lin J. Plexiform fibromyxoma: a clinicopathological and immunohistochemical analysis of two cases with a literature review. J Int Med Res 2021; 49:3000605211027878. [PMID: 34369189 PMCID: PMC8358512 DOI: 10.1177/03000605211027878] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/14/2023] Open
Abstract
OBJECTIVE This article aimed to study the clinicopathological features, immunophenotypes, and differential diagnoses of plexiform fibromyxoma (PF). METHODS We searched clinical and pathology databases of our hospital for patients with histologically confirmed PF from 2007 to 2020 and reviewed the relevant English and Chinese language literature. RESULTS Two cases of PF were identified, a 67-year-old woman and a 23-year-old man. Both patients presented with melena and anemia and underwent partial gastrectomy. Histologically, the tumors exhibited a plexiform growth pattern in the gastric submucosa and the presence of bland-looking spindle cells in the fibromyxoid stroma with the formation of small blood vessels. Immunohistochemically, the two cases were strongly positive for vimentin, smooth muscle actin, and muscle-specific actin and negative for CD117, discovered on gastrointestinal stromal tumors protein 1, CD34, CD10, S100, desmin, H-caldesmon, estrogen receptor, progesterone receptor, β-catenin, and cytokeratin. CONCLUSIONS PF is a rare mesenchymal tumor of the stomach that can be distinguished from other gastrointestinal mesenchymal tumors based on its distinctive morphology and immunophenotype.
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Affiliation(s)
- Shaofei Ma
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Jing Wang
- Department of Ultrasonography, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Zhanjun Lu
- Department of Gastroenterology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Chaoying Shi
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Daohua Yang
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
| | - Jun Lin
- Department of Pathology, Shanghai General Hospital, Shanghai Jiao Tong University of Medicine, Shanghai, China
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21
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Li Z, Jiang Q, Guo D, Peng Y, Zhang J, Chen X. Gastric Plexiform Fibromyxoma with Two Different Growth Patterns on Histological Images: a Case Report. J Gastric Cancer 2021; 21:213-219. [PMID: 34234982 PMCID: PMC8255301 DOI: 10.5230/jgc.2021.21.e17] [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] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/28/2021] [Revised: 06/10/2021] [Accepted: 06/11/2021] [Indexed: 01/12/2023] Open
Abstract
Plexiform fibromyxoma (PF) of the stomach is a very rare mesenchymal tumor of the gastrointestinal tract. We report the first case of PF with 2 different growth patterns pathologically confirmed after surgical resection. The tumor was characterized microscopically as infiltrative; it demonstrated diffuse growth into the smooth muscle bundles of the muscularis propria and was also multinodular and plexiform within the myxoid stroma. Immunohistochemical analysis revealed that the tumor cells were positive or weakly positive for smooth muscle actin, vimentin, and H-caldesmon and negative for desmin, CD117, CD34, CK-20, Pan-CK, Dog1, S100, ER, PR, and CD10. No mutations of C-kit and platelet-derived growth factor receptor alpha were detected. No genetic disruption of glioma-associated oncogene homolog 1 was detected by fluorescence in situ hybridization. The final diagnosis of PF was mainly based on the morphological and immunohistochemical findings.
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Affiliation(s)
- Zhenyu Li
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Qingming Jiang
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Dongfang Guo
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Yangling Peng
- Department of Radiology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Jing Zhang
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
| | - Xinyu Chen
- Department of Pathology, Chongqing University Cancer Hospital, Chongqing, People's Republic of China
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22
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Sbaraglia M, Businello G, Bellan E, Fassan M, Dei Tos AP. Mesenchymal tumours of the gastrointestinal tract. Pathologica 2021; 113:230-251. [PMID: 34294940 PMCID: PMC8299319 DOI: 10.32074/1591-951x-309] [Citation(s) in RCA: 10] [Impact Index Per Article: 2.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/29/2021] [Accepted: 06/29/2021] [Indexed: 02/06/2023] Open
Abstract
Mesenchymal tumours represent a heterogenous group of neoplasms encopassing benign, intermediate malignancy, and malignant entities. Sarcomas account for approximately 1% of human malignancies. In consideration of their rarity as well as of intrinsic complexity, diagnostic accuracy represents a major challenge. Traditionally, mesenchymal tumours are regarded as lesions the occurrence of which is mostly limited to somatic soft tissues. However, the occurrence of soft tissue tumours at visceral sites represent a well recognized event, and the GI-tract ranks among the most frequently involved visceral location. There exist entities such as gastrointestinal stromal tumours (GIST) and malignant gastointestinal neuroectodermal tumors that exhibit exquisite tropism for the GI-tract. This review will focus also on other relevant clinico-pathologic entities in which occurrence at visceral location is not at all negligible.
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Affiliation(s)
- Marta Sbaraglia
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Gianluca Businello
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Elena Bellan
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Matteo Fassan
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
| | - Angelo Paolo Dei Tos
- Department of Pathology, Azienda Ospedale-Università Padova, Padua, Italy
- Department of Medicine, University of Padua School of Medicine, Padua, Italy
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23
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Arslan ME, Li H, Fu Z, Jennings TA, Lee H. Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis. World J Gastrointest Oncol 2021; 13:409-423. [PMID: 34040702 PMCID: PMC8131905 DOI: 10.4251/wjgo.v13.i5.409] [Citation(s) in RCA: 8] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/19/2021] [Revised: 03/22/2021] [Accepted: 04/26/2021] [Indexed: 02/06/2023] Open
Abstract
Plexiform fibromyxoma (PF) is a very rare mesenchymal neoplasm of the stomach that was first described in 2007 and was officially recognized as a subtype of gastric mesenchymal neoplasm by World Health Organization (WHO) in 2010. Histologically, PF is characterized by a plexiform growth of bland spindle to ovoid cells embedded in a myxoid stroma that is rich in small vessels. The lesion is usually paucicellular. While mucosal and vascular invasion have been documented, no metastasis or malignant transformation has been reported. Its pathogenesis is largely unknown and defining molecular alterations are not currently available. There are other mesenchymal tumors arising in the gastrointestinal tract that need to be differentiated from PF given their differing biologic behaviors and malignant potential. Histologic mimics with spindle cells include gastrointestinal stromal tumor, smooth muscle tumor, and nerve sheath tumor. Histologic mimics with myxoid stroma include myxoma and aggressive angiomyxoma. Molecular alterations that have been described in a subset of PF may be seen in gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 (GLI1) rearrangement. The recent increase in publications on PF reflects growing recognition of this entity with expansion of clinical and pathologic findings in these cases. Herein we provide a review of PF in comparison to other mesenchymal tumors with histologic and molecular resemblance to raise the awareness of this enigmatic neoplasm. Also, we highlight the challenges pathologists face when the sample is small, or such rare entity is encountered intraoperatively.
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Affiliation(s)
- Mustafa Erdem Arslan
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Hua Li
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Zhiyan Fu
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Timothy A Jennings
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
| | - Hwajeong Lee
- Pathology and Laboratory Medicine, Albany Medical Center, Albany, NY 12208, United States
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24
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Wardelmann E, Hartmann W. [New in the current WHO classification (2020) for soft tissue sarcomas]. DER PATHOLOGE 2021; 42:281-293. [PMID: 33822252 DOI: 10.1007/s00292-021-00935-8] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 03/10/2021] [Indexed: 11/27/2022]
Abstract
The current WHO classification for tumors of soft tissue and bone includes numerous new entities, most often defined by novel molecular findings. In this article, we present translocation-positive tumors to broaden the spectrum of monomorphic mesenchymal neoplasias. The undifferentiated small round cell sarcomas are now assembled in their own separate chapter to underline their occurrence in both soft tissue and bone, emphasizing their morphologic, molecular, and biologic differences. Another interesting new group are tumors with GLI1 activation, which, however, have not yet been included into the WHO classification. NTRK-driven tumors present with a potential therapeutic target for several established inhibitors. Finally, there have been novel findings in rhabdomyosarcomas allowing more precise subtyping associated with different biological behavior.
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Affiliation(s)
- Eva Wardelmann
- Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149, Münster, Deutschland.
| | - Wolfgang Hartmann
- Gerhard-Domagk-Institut für Pathologie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude D17, 48149, Münster, Deutschland
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25
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Papke DJ, Hornick JL. Recent developments in gastroesophageal mesenchymal tumours. Histopathology 2020; 78:171-186. [PMID: 33382494 DOI: 10.1111/his.14164] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/12/2020] [Revised: 05/26/2020] [Accepted: 05/27/2020] [Indexed: 12/19/2022]
Abstract
The pathologist's approach to gastroesophageal mesenchymal tumours has changed dramatically during the last 25 years. In particular, gastrointestinal stromal tumour (GIST) has evolved from a wastebasket mesenchymal tumour category to a precisely defined entity with an increasingly detailed genetic subclassification. This subclassification has brought gastrointestinal mesenchymal neoplasia into the realm of precision medicine, with specific treatments optimised for particular genetic subtypes. Molecular genetic data have also greatly improved our understanding of oesophageal mesenchymal tumours, including the discovery that so-called 'giant fibrovascular polyps' in fact represent a clinically distinctive presentation of well-differentiated liposarcoma. Here, we will focus on gastroesophageal mesenchymal tumours for which there have been recent developments in classification, molecular genetics or tumour biology: granular cell tumour, 'giant fibrovascular polyp'/well-differentiated liposarcoma, plexiform fibromyxoma, gastroblastoma and, of course, GIST.
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Affiliation(s)
- David J Papke
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
| | - Jason L Hornick
- Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA
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26
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Pei JY, Tan B, Liu P, Cao GH, Wang ZS, Qu LL. Gastric plexiform fibromyxoma: A case report. World J Clin Cases 2020; 8:5639-5644. [PMID: 33344555 PMCID: PMC7716332 DOI: 10.12998/wjcc.v8.i22.5639] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/30/2020] [Revised: 06/16/2020] [Accepted: 09/11/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare mesenchymal tumor of the stomach. The clinical features of PF frequently include upper abdominal pain, abdominal discomfort, hematemesis, melena, pyloric obstruction and an upper abdominal mass. We herein report a case of PF resected by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy.
CASE SUMMARY The patient was admitted to hospital, due to a 1-wk history of an abdominal space-occupying lesion identified during a health examination. He underwent complete resection by laparoscopic radical distal gastrectomy plus Roux-en-Y gastrojejunostomy. During the operation, the tumor was located in the anterior wall of the gastric antrum (approximately 7 cm × 6 cm × 5.5 cm) and did not show evidence of invasion of the serosa. Histology showed that the tumor cells were oval fibroblast-like and spindle-shaped cells, with numerous thin-walled blood vessels and abundant myxoid stroma. Cellular atypia and mitosis were both rare. Immunohistochemistry showed that the tumor cells were immunoreactive for smooth muscle actin, S-100 and CD-10, but were negative for CD-117, CD-34, DOG-1, and ALK. In this case, S-100 was positive and no significant disease was observed during the follow-up period.
CONCLUSION The fact that PF is a rare tumor with only a few cases in this region can lead to misdiagnosis of this entity and pose a real diagnostic challenge for general surgeons and pathologists when encountering such patients and differentiating PF from other primary tumors of gastric mesenchymal origin. Our report may help increase awareness of this rare, but important new disease entity.
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Affiliation(s)
- Jin-Yu Pei
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Bin Tan
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
| | - Peng Liu
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Guang-Hua Cao
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
- Medical College, Qingdao University, Qingdao 266071, Shandong Province, China
| | - Zu-Sen Wang
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
| | - Lin-Lin Qu
- Department of Hepatopancreatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao 266555, Shandong Province, China
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27
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Gastric Plexiform Fibromyxoma Arising in the Cardia in an Adolescent Male: A Rare Tumor with an Unusual Location. Case Rep Surg 2020; 2020:9037960. [PMID: 33489405 PMCID: PMC7803177 DOI: 10.1155/2020/9037960] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/06/2019] [Revised: 10/17/2020] [Accepted: 10/26/2020] [Indexed: 02/07/2023] Open
Abstract
Plexiform fibromyxoma of the stomach, also known as plexiform angiomyxoid myofibroblastic tumor, is a rare benign gastric mesenchymal tumor, first described in 2007, which usually arises in the gastric antrum and affects adults. Few cases have been reported in children and adolescents. It can present with different clinical manifestations including abdominal pain, dyspepsia, hematemesis, and vomiting. Preoperatively, this tumor is usually diagnosed as gastrointestinal stromal tumor (GIST), and the correct diagnosis is made only after histopathological examination following surgical resection. Most cases were reported from East Asia (China, Japan, and Korea), North America, and Europe. We report herein a unique case of plexiform fibromyxoma, the first to be reported from the Middle East, arising in the cardia of the stomach in a 16-year-old adolescent male, with a brief review of the literature.
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28
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Isopi C, Vitali G, Pieri F, Solaini L, Ercolani G. Gastric splenosis mimicking a gastrointestinal stromal tumor: A case report. World J Gastrointest Surg 2020; 12:435-441. [PMID: 33194092 PMCID: PMC7642345 DOI: 10.4240/wjgs.v12.i10.435] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/30/2020] [Revised: 08/13/2020] [Accepted: 09/14/2020] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Mass lesions located in the wall of the stomach (and also of the bowel) are referred to as "intramural." The differential diagnosis of such lesions can be challenging in some cases. As such, it may occur that an inconclusive fine needle aspiration (FNA) result give way to an unexpected diagnosis upon final surgical pathology. Herein, we present a case of an intramural gastric nodule mimicking a gastric gastrointestinal stromal tumor (GIST). CASE SUMMARY A 47-year-old Caucasian woman, who had undergone splenectomy for trauma at the age of 16, underwent gastroscopy for long-lasting epigastric pain and dyspepsia. It revealed a 15 mm submucosal nodule bulging into the gastric lumen with smooth margins and normal overlying mucosa. A thoraco-abdominal computed tomography scan showed in the gastric fundus a rounded mass (30 mm in diameter) with an exophytic growth and intense enhancement after administration of intravenous contrast. Endoscopic ultrasound scan showed a hypoechoic nodule, and fine needle FNA was inconclusive. Gastric GIST was considered the most probable diagnosis, and surgical resection was proposed due to symptoms. A laparoscopic gastric wedge resection was performed. The postoperative course was uneventful, and the patient was discharged on the seventh postoperative day. The final pathology report described a rounded encapsulated accumulation of lymphoid tissue of about 4 cm in diameter consistent with spleen parenchyma implanted during the previous splenectomy. CONCLUSION Splenosis is a rare condition that should always be considered as a possible diagnosis in splenectomized patients who present with an intramural gastric nodule.
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Affiliation(s)
- Claudio Isopi
- Department of Surgery, Morgagni-Pierantoni Hospital, Forli 47121, Italy
| | - Giulia Vitali
- Department of Surgery, Morgagni-Pierantoni Hospital, Forli 47121, Italy
| | - Federica Pieri
- Pathology Unit, Morgagni-Pierantoni Hospital, Forli 47121, Italy
| | - Leonardo Solaini
- Department of Surgery, Morgagni-Pierantoni Hospital, Forli 47121, Italy
- Department of Medical and Surgical Sciences, University of Bologna, Bologna 47100, Italy
| | - Giorgio Ercolani
- Department of Surgery, Morgagni-Pierantoni Hospital, Forli 47121, Italy
- Department of Medical and Surgical Sciences, University of Bologna, Bologna 47100, Italy
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Frequency of Plexiform Fibromyxoma relative to gastrointestinal stromal tumor: A single center study. Ann Diagn Pathol 2020; 48:151568. [PMID: 32717659 DOI: 10.1016/j.anndiagpath.2020.151568] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/30/2020] [Revised: 04/29/2020] [Accepted: 05/04/2020] [Indexed: 02/08/2023]
Abstract
Plexiform Fibromyxoma (PF) is an exceedingly rare mesenchymal tumor of the gastric antrum that was first described in 2007. PF is a close mimic of gastrointestinal stromal tumor (GIST) clinically and histopathologically, but the frequency of PF relative to GIST is unknown. Moreover, although likely benign, long-term follow-up of PF is limited due to its recent description and rarity. PF has not been reported in distal jejunum. 118 primary GISTs that were surgically resected at our center (2000-2019) were retrieved. The patients' age, gender, clinical presentation, tumor location, size and number, and the presence or absence of metastasis, were documented. Risk of progressive disease was assessed according to the published GIST risk stratification model. Two unique cases of PF were compared. One gastric PF has been followed-up for 8 years, and the other occurred in the distal jejunum. In the latter, the PF diagnosis was rendered after the case was re-reviewed for the study. Clinical presentation resembled GIST in both PF cases. 14% of GISTs showed high risk features or were clinically malignant, whereas the PF patient with 8-year follow-up was free of disease. Based on this study, PF may be under-recognized, with 1 to 2% (1.7%) of GIST-like tumors possibly representing PF. PF may involve variable segments of intestine similar to GIST. Given the remarkable clinical and histopathologic overlap with GIST but differing outcomes, awareness and cognizance of this rare entity, plexiform fibromyxoma, is required for proper patient care.
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Jin M, Chowsilpa S, Ali SZ, Wakely PE. Mesenchymal neoplasms of the tubular gut and adjacent structures: experience with EUS-guided fine-needle aspiration cytopathology. J Am Soc Cytopathol 2020; 9:528-539. [PMID: 32622859 DOI: 10.1016/j.jasc.2020.05.009] [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: 05/16/2020] [Revised: 05/23/2020] [Accepted: 05/26/2020] [Indexed: 12/17/2022]
Abstract
INTRODUCTION Unlike epithelial malignancies, mesenchymal neoplasms arising within the tubular gut are less often encountered in endoscopic ultrasound-guided (EUS) fine-needle aspiration biopsies (FNABs). Nonetheless, preoperative diagnosis of such neoplasms has important therapeutic and prognostic value. We report our experience with this category of neoplasms from the past decade. MATERIALS AND METHODS We performed a 10-year retrospective search at our respective institutions to identify EUS-guided FNAB cases of mesenchymal neoplasms arising from the tubular gut wall and closely adjacent structures. Cytopathologic diagnoses were compared to corresponding surgical pathology (SP) when available. Cases with either no confirmatory cell block (CB) immunohistochemical (IHC) staining, or no SP were excluded. RESULTS Two-hundred eighty-two cases (M:F = 1:1; age range: 25-94 years, mean age = 60 years) of EUS-guided FNAB from the tubular gut met our criteria. Onsite adequacy was performed on nearly all cases. Case numbers: 209 gastrointestinal stromal tumors (GIST), 58 smooth muscle neoplasms, and 15 miscellaneous neoplasms. Of these, 188 (67%) had SP follow-up. We found that 258 (91%) aspirates had a correct specific diagnosis, 3 (1%) were nondiagnostic, 18 (6%) had indeterminate diagnoses, and 3 (1%) had incorrect diagnoses (2 leiomyosarcomas mistaken as leiomyoma, and 1 fibrosclerotic lesion mistaken as inflammatory pseudotumor). Of 94 cases with no SP, all had a specific cytologic diagnosis based on confirmatory IHC staining from the CB including 61 GISTs, 29 smooth muscle neoplasms, and 4 miscellaneous tumors. CONCLUSION This study endorses the clinical utility of EUS-guided FNAB in the diagnosis of tubular gut mesenchymal neoplasms. A definitive and accurate diagnosis is possible in over 90% of cases, chiefly when cytomorphology is coupled with optimal cellularity and IHC from a concurrent CB. EUS-guided FNAB diagnosis of mesenchymal tubular gut neoplasms may play an important role in determining neoadjuvant therapy as targeted therapy evolves.
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Affiliation(s)
- Ming Jin
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio
| | - Sayanan Chowsilpa
- Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland
| | - Syed Z Ali
- Department of Pathology, The Johns Hopkins Hospital, Baltimore, Maryland
| | - Paul E Wakely
- Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio.
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Abstract
The Glioma-associated homologue-1 (GLI-1) gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. GLI-1 also plays a role in several other pathways and is important for proliferation, migration, invasion, growth and angioinvasion, and cancer stem cell self-renewal in a variety of malignancies. GLI-1 is amplified in several malignancies, including an epithelioid, pericytomatous soft tissue neoplasm that can exhibit malignant behaviour. More recently, GLI-1 fusions with other partner genes have been found in three rare tumours: a pericytomatous tumour with a t(7;12) translocation, where it partners with Actin beta 1, and gastroblastoma and plexiform fibromyxoma, where the partner gene is metastasis-associated lung adenocarcinoma transcript 1, respectively.
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Affiliation(s)
- Runjan Chetty
- Department of Pathology, University Health Network Laboratory Medicine Program, University of Toronto, Toronto, Ontario, Canada
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Vieites Branco I, Silva JC, Pinto F, Pires F, Almeida A. Rare mesenchymal antral gastric tumors: Case reports of glomus tumor and plexiform fibromyxoma. Radiol Case Rep 2019; 15:71-76. [PMID: 31737150 PMCID: PMC6849420 DOI: 10.1016/j.radcr.2019.10.006] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/16/2019] [Revised: 09/23/2019] [Accepted: 10/03/2019] [Indexed: 12/15/2022] Open
Abstract
Gastrointestinal stromal tumors account for the majority of the mesenchymal neoplasms of the gastric antrum, but other entities should also be considered. We present the case of a 70-year-old man with an ulcerated well-circumscribed polypoid submucosal mass in the gastric antrum which was proven to be a glomus tumor. CT showed progressive contrast enhancement. Magnetic resonance imaging showed a high T2 signal intensity and heterogeneous arterial contrast enhancement which became more homogeneous in later phases. We also present the case of a 50-year-old woman with a large polypoid mass occupying half the circumference of the distal gastric antrum that was proven to be a plexiform fibromyxoma. Contrast-enhanced CT and magnetic resonance imaging revealed a pattern of progressive and heterogeneous enhancement. Although gastrointestinal stromal tumors are the most frequent gastric mesenchymal neoplasms, other rare mesenchymal tumors such as glomus tumor and plexiform fibromyxoma may arise in the gastric antrum.
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Affiliation(s)
- Inês Vieites Branco
- Centro Hospitalar Vila Nova de Gaia – Espinho, Radiology Department, Rua Conceição Fernandes 1282, Vila Nova de Gaia, Portugal
- Corresponding author.
| | - João Carlos Silva
- Centro Hospitalar Vila Nova de Gaia – Espinho, Gastroenterology Department Rua Conceição Fernandes 1282, Vila Nova de Gaia, Portugal
| | - Fernanda Pinto
- LAP – Laboratório de Anatomia Patológica, Rua da Constituição 2087, Porto, Portugal
| | - Fernando Pires
- Centro Hospitalar Vila Nova de Gaia – Espinho, Radiology Department, Rua Conceição Fernandes 1282, Vila Nova de Gaia, Portugal
| | - Ana Almeida
- Centro Hospitalar Vila Nova de Gaia – Espinho, Radiology Department, Rua Conceição Fernandes 1282, Vila Nova de Gaia, Portugal
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GLI1-amplifications expand the spectrum of soft tissue neoplasms defined by GLI1 gene fusions. Mod Pathol 2019; 32:1617-1626. [PMID: 31189998 PMCID: PMC6821565 DOI: 10.1038/s41379-019-0293-x] [Citation(s) in RCA: 84] [Impact Index Per Article: 14.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/18/2019] [Revised: 04/29/2019] [Accepted: 05/01/2019] [Indexed: 01/04/2023]
Abstract
GLI1 fusions involving ACTB, MALAT1, and PTCH1 genes have been recently reported in a subset of malignant soft tissue tumors with characteristic monomorphic nested epithelioid morphology and frequent S100 positivity. However, we encountered a group of morphologically similar soft tissue tumors lacking the canonical GLI1 gene fusions and sought to investigate their genetic abnormalities. A combined approach including RNA sequencing, targeted exome sequencing and FISH methodologies were used to identify potential novel genetic abnormalities. Ten patients (five females, five males) with an age range of 4-65 years (median 32.5) were identified. Tumors were located in the soft tissues of the limbs, trunk and head and neck, with one each in the tongue and lung. Histologically, tumors revealed ovoid to epithelioid cells arranged in a distinctive nested-trabecular pattern, separated by thin septa and a delicate vascular network. Two cases showed areas of increased nuclear pleomorphism and focal fascicular spindle cell growth. Four tumors showed a high mitotic count (≥15/10 HPFs), with necrosis seen in three of them. Lymphovascular invasion was noted in two cases. No consistent immunoprofile was detected, with positivity for CD56 (six cases), S100 (four cases), SMA (two cases), and pan-CK (one case). FISH showed GLI1 (12q13.3) gene amplification in all 10 cases, with co-amplification of CDK4 (12q14.1) in nine (90%) and MDM2 (12q15) in eight (80%) cases. Targeted exome sequencing performed in three cases confirmed the GLI1, CDK4, and MDM2 co-amplification. Only one case showed the presence of both GLI1 break-apart and amplification, although no gene partner was detected. Our findings suggest that GLI1 amplification, often associated with co-amplifications of CDK4 and MDM2 genes, may represent an alternative genetic mechanism of GLI1 oncogenic activation akin to GLI1 fusions, defining the pathogenesis of an emerging group of malignant soft tissue tumors with a distinctive nested growth pattern and variable immunoprofile.
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Banerjee S, de la Torre J, Burgoyne AM, Ponsford Tipps AM, Savides TJ, Sicklick JK. Gastric Plexiform Fibromyxoma. J Gastrointest Surg 2019; 23:1936-1939. [PMID: 30761468 PMCID: PMC6692254 DOI: 10.1007/s11605-019-04132-0] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Key Words] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 12/27/2018] [Accepted: 01/22/2019] [Indexed: 01/31/2023]
Affiliation(s)
- Sudeep Banerjee
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, 3855 Health Sciences Drive, Mail Code 0987, La Jolla, CA, 92093-0987, USA
- Department of Surgery, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA
| | - Jorge de la Torre
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, 3855 Health Sciences Drive, Mail Code 0987, La Jolla, CA, 92093-0987, USA
| | - Adam M Burgoyne
- Division of Hematology Oncology, Department of Medicine, Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA
| | - Ann M Ponsford Tipps
- Division of Anatomic Pathology, Department of Pathology, University of California, San Diego, La Jolla, CA, USA
| | - Thomas J Savides
- Division of Gastroenterology, Department of Medicine, University of California, San Diego, La Jolla, CA, USA
| | - Jason K Sicklick
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, 3855 Health Sciences Drive, Mail Code 0987, La Jolla, CA, 92093-0987, USA.
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Abstract
Soft tissue neoplasms with myxoid features are collectively not uncommon. Their often complex differential diagnosis makes them significantly over-represented among consultation cases. This applies not only to sarcomas but in particular to benign lesions as well. Generally, myxoid soft tissue lesions are divided into two major groups: (1) myxoid lesions by definition (which can however rarely be non-myxoid) and (2) rare myxoid variants of otherwise non-myxoid entities.Four major diagnostic challenges are responsible for the complexity of myxoid soft tissue neoplasms: (1) Diagnosis of malignancy in many cases is not based on conventional malignancy criteria but is defined by the entity itself, making under-diagnosis of malignancy likely in entities such as low-grade fibromyxoid sarcoma. (2) On the other hand, harmless myxoid lesions with features of high proliferation, e.g. nodular and proliferative fasciitis, tend to be over-diagnosed as malignant by the unworried. (3) The necessity to assess not only cellular morphology/differentiation, but also the stromal, vascular and architectural characteristics adds to the complexity of the differential diagnostic algorithm. (4) Last but not least, recognition of unexpected myxoid variants of non-myxoid entities is basically impossible if focal conventional areas are absent, underlining the need for high suspicion index and sufficient sampling.This review illuminates the various aspects related to the differential diagnostic workup of these challenging entities.
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Banerjee S, Corless CL, Miettinen MM, Noh S, Ustoy R, Davis JL, Tang CM, Yebra M, Burgoyne AM, Sicklick JK. Loss of the PTCH1 tumor suppressor defines a new subset of plexiform fibromyxoma. J Transl Med 2019; 17:246. [PMID: 31362756 PMCID: PMC6668176 DOI: 10.1186/s12967-019-1995-z] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/05/2019] [Accepted: 07/23/2019] [Indexed: 02/07/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare gastric tumor often confused with gastrointestinal stromal tumor. These so-called "benign" tumors often present with upper GI bleeding and gastric outlet obstruction. It was recently demonstrated that approximately one-third of PF have activation of the GLI1 oncogene, a transcription factor in the hedgehog (Hh) pathway, via a MALAT1-GLI1 fusion protein or GLI1 up-regulation. Despite this discovery, the biology of most PFs remains unknown. METHODS Next generation sequencing (NGS) was performed on formalin-fixed paraffin-embedded (FFPE) samples of PF specimens collected from three institutions (UCSD, NCI and OHSU). Fresh frozen tissue from one tumor was utilized for in vitro assays, including quantitative RT-PCR and cell viability assays following drug treatment. RESULTS Eight patients with PF were identified and 5 patients' tumors were analyzed by NGS. An index case had a mono-allelic PTCH1 deletion of exons 15-24 and a second case, identified in a validation cohort, also had a PTCH1 gene loss associated with a suspected long-range chromosome 9 deletion. Building on the role of Hh signaling in PF, PTCH1, a tumor suppressor protein, functions upstream of GLI1. Loss of PTCH1 induces GLI1 activation and downstream gene transcription. Utilizing fresh tissue from the index PF case, RT-qPCR analysis demonstrated expression of Hh pathway components, SMO and GLI1, as well as GLI1 transcriptional targets, CCND1 and HHIP. In turn, short-term in vitro treatment with a Hh pathway inhibitor, sonidegib, resulted in dose-dependent cell killing. CONCLUSIONS For the first time, we report a novel association between PTCH1 inactivation and the development of plexiform fibromyxoma. Hh pathway inhibition with SMO antagonists may represent a target to study for treating a subset of plexiform fibromyxomas.
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Affiliation(s)
- Sudeep Banerjee
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
- Department of Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA USA
| | - Christopher L. Corless
- Department of Pathology and Knight Cancer Institute, Oregon Health & Science University, Portland, OR USA
| | | | - Sangkyu Noh
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
| | - Rowan Ustoy
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
| | - Jessica L. Davis
- Department of Pathology and Knight Cancer Institute, Oregon Health & Science University, Portland, OR USA
| | - Chih-Min Tang
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
| | - Mayra Yebra
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
| | - Adam M. Burgoyne
- Division of Hematology Oncology, Department of Medicine, Moores Cancer Center, University of California, San Diego, La Jolla, CA USA
| | - Jason K. Sicklick
- Division of Surgical Oncology, Department of Surgery, Moores Cancer Center, University of California, San Diego, UC San Diego Health Sciences, 3855 Health Sciences Drive, Room 2313, Mail Code 0987, La Jolla, CA 92093-0987 USA
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37
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Kobori I, Katayama Y, Hayashi K, Fujimoto Y, Kaneko M, Kitahama A, Kitagawa T, Imada H, Ban S, Tamano M. Uninodular Fibromyxomatous Gastric Tumor Resected by Endoscopic Submucosal Dissection. Intern Med 2019; 58:2015-2018. [PMID: 30918189 PMCID: PMC6702017 DOI: 10.2169/internalmedicine.2370-18] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/11/2022] Open
Abstract
Esophagogastroduodenoscopy of a 45-year-old woman revealed a submucosal tumor in the gastric antrum. Endoscopic submucosal dissection of the tumor was performed. The histological findings revealed a fibromyxomatous tumor composed of myofibroblastic cells with no evidence of malignancy. The growth pattern of the resected specimen was not multinodular or plexiform. We therefore tentatively referred to the present tumor descriptively as a gastric uninodular fibromyxomatous tumor, stressing its singular nodularity. It was initially roughly 10 mm in size but grew over a period of 4 years. A uninodular plexiform fibromyxoma might increase in size but might not become multinodular if it remains small.
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Affiliation(s)
- Ikuhiro Kobori
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Yasumi Katayama
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
- Endoscopy Center, Dokkyo Medical University Saitama Medical Center, Japan
| | - Kazunori Hayashi
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Yo Fujimoto
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Mayuko Kaneko
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Akihiro Kitahama
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Tomoyuki Kitagawa
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Hiroki Imada
- Department of Pathology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Shinichi Ban
- Department of Pathology, Dokkyo Medical University Saitama Medical Center, Japan
| | - Masaya Tamano
- Department of Gastroenterology, Dokkyo Medical University Saitama Medical Center, Japan
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Su HA, Yen HH, Chen CJ. An Update on Clinicopathological and Molecular Features of Plexiform Fibromyxoma. Can J Gastroenterol Hepatol 2019; 2019:3960920. [PMID: 31360694 PMCID: PMC6642755 DOI: 10.1155/2019/3960920] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/29/2019] [Accepted: 06/16/2019] [Indexed: 01/30/2023] Open
Abstract
Plexiform fibromyxoma is a rare and newly described gastric mesenchymal tumor with only 121 reported cases in the literature. Our understanding of plexiform fibromyxoma requires updating since the first case has been reported by Takahashi et al. 12 years ago. The present review summarized reported cases in the literature, and both clinical and pathological aspects of plexiform fibromyxoma were comprehensively discussed. Plexiform fibromyxoma usually causes nonspecific or bleeding signs or symptoms, and therefore clinical recognition of the disease is challenging. Plexiform fibromyxoma is of benign nature without any metastasis or recurrence reported, and more conservative surgical treatment should be considered.
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Affiliation(s)
- Hsuan-An Su
- Department of Medical Education, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan
| | - Hsu-Heng Yen
- Endoscopy Center, Changhua Christian Hospital, Changhua, Taiwan
- School of Medicine, Chung Shan Medical University, Taichung, Taiwan
| | - Chih-Jung Chen
- School of Medicine, Chung Shan Medical University, Taichung, Taiwan
- Department of Surgical Pathology, Changhua Christian Hospital, Changhua, Taiwan
- Department of Pathology and Laboratory Medicine, Taichung Veterans General Hospital, Taiwan
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Lai J, Kresak JL, Cao D, Zhang D, Zhang S, Leon ME, Shenoy A, Liu W, Trevino J, Starostik P, Gonzalo DH, Wang H, Liu X, Fan X. Gastric Plexiform Fibromyxoma: A Great Mimic of Gastrointestinal Stromal Tumor (GIST) and Diagnostic Pitfalls. J Surg Res 2019; 239:76-82. [PMID: 30822694 DOI: 10.1016/j.jss.2019.01.062] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/24/2018] [Revised: 01/10/2019] [Accepted: 01/25/2019] [Indexed: 02/05/2023]
Abstract
Through a multicenter study, we collected seven cases of gastric plexiform fibromyxoma including four females and three males, 21 to 79 y old (46.1 ± 10.1). All cases showed a unilocular lesion measuring 0.3 to 17 cm (5.3 ± 2.4), arising from antrum (5/7) or body (2/7). Six of the seven cases had intraoperative frozen sections and/or endoscopic ultrasound fine needle aspiration (EUS-FNA), and all of them were preoperatively or intraoperatively diagnosed as gastrointestinal stromal tumor (GIST). EUS-FNA material showed markedly elongated spindle cells with streaming oval to elongated nuclei with rounded ends. Histologically, the tumors exhibited a plexiform growth pattern and were composed of a rich myxoid stroma and cytologically bland uniform spindle cells without mitotic figures, with the exception of one case which displayed nuclear pleomorphism and increased mitosis. Immunostains showed the tumor cells to be focally positive for SMA (6/6), focally and weakly positive for desmin (3/6) and caldesmon (2/3), negative for CD117 (0/7), CD34 (0/7), DOG1 (0/4), and S100 (0/5). No mutations were identified on Next-Generation Sequencing test, and no loss of SDHB immunoreactivity was identified in the tumor with nuclear pleomorphism. One case was treated with Gleevec because of the initial diagnosis of GIST. All patients had a follow-up for up to 11 y, with no tumor recurrence or metastasis reported. Our results suggest that gastric plexiform fibromyxoma is rare and may be underrecognized and misinterpreted as GIST during intraoperative frozen section or preoperative EUS-FNA diagnosis without immunostains leading to inappropriate treatment.
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Affiliation(s)
- Jinping Lai
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
| | - Jesse L Kresak
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Dengfeng Cao
- Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, Missouri
| | - Dongwei Zhang
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Sharon Zhang
- Department of Pathology and Laboratory Medicine, University of California in Los Angeles (UCLA), California
| | - Marino E Leon
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Archana Shenoy
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, Missouri
| | - Weidong Liu
- Department of Surgery, Xiangya Hospital, XiangYa School of Medicine, Central South University, Changsha, China
| | - Jose Trevino
- Department of Surgery, University of Florida College of Medicine, Gainesville, Florida
| | - Petr Starostik
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - David Hernandez Gonzalo
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Hanlin Wang
- Department of Pathology and Laboratory Medicine, University of California in Los Angeles (UCLA), California
| | - Xiuli Liu
- Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida
| | - Xuemo Fan
- Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California
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40
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A rare case of submucosal gastric tumor. Dig Liver Dis 2019; 51:744. [PMID: 30573381 DOI: 10.1016/j.dld.2018.11.014] [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: 10/23/2018] [Revised: 11/16/2018] [Accepted: 11/20/2018] [Indexed: 12/11/2022]
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41
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Li J, Gao H, Lv M, Ma Y, Wang M. Gastric plexiform fibromyxoma: A rare case in a 5-year-old male. Pediatr Blood Cancer 2019; 66:e27638. [PMID: 30697921 DOI: 10.1002/pbc.27638] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/09/2018] [Revised: 01/06/2019] [Accepted: 01/13/2019] [Indexed: 01/24/2023]
Affiliation(s)
- Jiwei Li
- Department of Pathology, Kunming Children's Hospital, Kunming, China
| | - Hongqiang Gao
- Department of Hepatobiliary Surgery, The Affiliated Calmette Hospital of Kunming Medical University, Kunming, China
| | - Mengxing Lv
- Department of Pathology, Kunming Children's Hospital, Kunming, China
| | - Yangyang Ma
- Department of Pathology, Children's Hospital of Fudan University, Shanghai, China
| | - Meifen Wang
- Department of Gastroenterology, Kunming Children's Hospital, Kunming, China
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43
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A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions. Am J Surg Pathol 2019; 42:553-560. [PMID: 29309307 DOI: 10.1097/pas.0000000000001010] [Citation(s) in RCA: 123] [Impact Index Per Article: 20.5] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
Abstract
ACTB-GLI1 fusions have been reported as the pathognomonic genetic abnormality defining an unusual subset of actin-positive, perivascular myoid tumors, known as "pericytoma with the t(7;12) translocation." In addition, GLI1 oncogenic activation through a related MALAT1-GLI1 gene fusion has been recently reported in 2 unrelated gastric tumors, namely plexiform fibromyxoma and gastroblastoma. Triggered by unexpected targeted RNA-sequencing results detecting GLI1-related fusions in a group of malignant neoplasms with round to epithelioid morphology, and frequently strong S100 protein immunoreactivity, we investigated their clinicopathologic features in relation to other known pathologic entities sharing similar genetics. On the basis of a combined approach of targeted RNA sequencing and fluorescence in situ hybridization screening, we identified 6 cases with GLI1 gene fusions, including 4 fused to ACTB, 1 with MALAT1 and 1 with PTCH1 gene. Patients had a mean age of 36 years at diagnosis (range, 16 to 79 y) and slight female predilection all except 1 tumor originated in the soft tissue. Microscopically, the tumors had a monomorphic epithelioid phenotype arranged in a distinctive nested or cord-like architecture, separated by thin septae and delicate capillary network. All except 2 cases were strongly positive for S100 protein, whereas being negative for SOX10, SMA, and EMA. Only 1 tumor showed focal cytokeratin positivity in rare cells. Although the tumors showed some resemblance to pericytic/glomus tumors or myoepithelial tumors, the immunoprofile was not supportive of either lineage. Moreover, in contrast to the benign course of so-called pericytoma with t(7;12), 3 patients in this series developed metastatic disease to either lymph nodes or lung. In fact the only patient with lung metastases showed a novel PTCH1-GLI1 gene fusion. It remains to be determined whether these tumors represent a clinically and immunohistologically distinct subset of pericytoma, or an altogether novel soft tissue sarcoma. Our findings open new opportunities for targeted therapy, as tumors with GLI1 oncogenic activation, and subsequent PTCH1 overexpression, might be sensitive to sonic hedgehog pathway inhibitors.
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Fukazawa M, Koga H, Hiroshige S, Matsumoto T, Nakazono Y, Yoshikawa Y. Pediatric plexiform fibromyxoma: A PRISMA-compliant systematic literature review. Medicine (Baltimore) 2019; 98:e14186. [PMID: 30653169 PMCID: PMC6370170 DOI: 10.1097/md.0000000000014186] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/22/2018] [Revised: 11/12/2018] [Accepted: 12/26/2018] [Indexed: 12/15/2022] Open
Abstract
BACKGROUND Plexiform fibromyxoma (PF) is a rare gastric mesenchymal tumor, with approximately 80 cases reported to date. Gastrointestinal stromal tumor, the most common primary mesenchymal tumor of the stomach, shows different biological and clinical characteristics between adult and pediatric patients. OBJECTIVES This systematic literature review was conducted to elucidate the pathological and clinical features of pediatric PF compared to adult PF. METHODS MEDLINE (1948 to March 2018) and EMBASE (1947 to March 2018) were searched, and all English articles that reported clinical data on PF patients were identified. Two authors independently reviewed the articles and extracted data to assess immunohistochemistry, sex, chief complaint, tumor size, tumor-related mortality, and tumor recurrence and metastasis. RESULTS A total of 41 reports with 80 PF patients (of whom 70 were adult PF and 10 were pediatric PF patients) confirmed by histological and immunohistochemical findings were included. Of a total of 80 tumors, 62 (78%) were located in the gastric antrum, 42 (65%) presented with ulceration, and 48 (74%) were resected by partial gastrectomy. Median tumor size of the resected specimen was larger in pediatric PF than in adult PF cases (5.3 cm vs 4.0 cm, P = .036). However, there was no difference between pediatric and adult PFs in immunohistochemical expression, sex predominance, chief complaint, tumor-related mortality, and tumor recurrence and metastasis during the follow-up periods. CONCLUSION Other than increased tumor growth in pediatric PFs, PF is a single disease entity with similar pathological features and benign clinical behavior regardless of onset age.
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Affiliation(s)
| | | | | | | | - Yuichi Nakazono
- Department of Pathology, National Hospital Organization Beppu Medical Center, 1473 Oaza-Uchikamado, Beppu, Oita, Japan
| | - Yasuji Yoshikawa
- Department of Pathology, National Hospital Organization Beppu Medical Center, 1473 Oaza-Uchikamado, Beppu, Oita, Japan
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Zhang WG, Xu LB, Xiang YN, Duan CH. Plexiform fibromyxoma of the small bowel: A case report. World J Clin Cases 2018; 6:1067-1072. [PMID: 30568965 PMCID: PMC6288503 DOI: 10.12998/wjcc.v6.i15.1067] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 08/10/2018] [Revised: 11/05/2018] [Accepted: 11/07/2018] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Plexiform fibromyxoma is a rare, special type of mesenchymal tumor. The most common presenting symptoms are anemia, hematemesis, and hematochezia, without sex or age predilection. The reported cases have mainly occurred in the gastric antrum and pylorus region, with some cases in the duodenum.
CASE SUMMARY We report here a case of plexiform fibromyxoma in the upper segment of the jejunum, which was continuously followed up for 3 years after surgical removal. Plexiform fibromyxoma showed multinodular or plexiform growth. The cells in the tumor node were spindle-shaped but few in number and mitotic figures. Small blood vessels and mucous matrix were found among the tumor cells. Immunohistochemistry revealed that the plexiform fibromyxoma cells were positive for smooth muscle actin, focally positive for CD10, and negative for cytokeratin, CD117, DOG-1 (discovered on GIST-1) desmin, S-100, epithelial membrane antigen, and CD34. Ki-67 labeling index was < 5%. Plexiform fibromyxoma showed benign biological behavior. After 3 years of consecutive postoperative follow-up, no obvious signs of metastasis or recurrence were found by imaging examination.
CONCLUSION Plexiform fibromyxoma is a rare type of mesenchymal tumor. The diagnosis mainly depends on pathological examination, and it should be distinguished from other gastrointestinal mesenchymal tumors.
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Affiliation(s)
- Wei-Guang Zhang
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Liang-Bi Xu
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Yi-Ning Xiang
- Department of Pathology, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
| | - Chen-Hong Duan
- Department of Endoscopy, the Affiliated Hospital of Guizhou Medical University, Guiyang 550001, Guizhou Province, China
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Li X, Li S, Xiong S, Wang Z, Zhang H. A rare case of plexiform angiomyxoid myofibroblastic tumor in the stomach which was diagnosed at the earliest stage in the literature. Gastroenterol Rep (Oxf) 2018; 6:313-316. [PMID: 27940603 PMCID: PMC6225817 DOI: 10.1093/gastro/gow035] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/21/2016] [Accepted: 09/23/2016] [Indexed: 02/05/2023] Open
Abstract
Plexiform angiomyxoid myofibroblastic tumor (PAMT) is a rare gastric mesenchymal entity with a peculiar plexiform pattern, bland spindle cells and myxoid stroma rich in arborizing blood vessels. Here we report a 44-year-old Chinese woman with PAMT. Initially she was admitted for removal of a gastric antral'polyp' found on a routine examination 5 months previously. Our gastroscopy showed a 0.8 × 0.8 cm polyp-like mass in the antrum which protruded into the lumen. Endoscopic submucosal dissection (ESD) was performed to remove this mass en bloc. The specimen was carefully examined by pathologists, and the correct diagnosis of PAMT was finally made. The tumor in this case depicted typical histopathological and immunohistochemical features of gastric PAMT. This PAMT was not only the smallest on endoscopic examination in the literature but also-unlike the already reported PAMTs-exhibited a focal hyperechogenic lesion on endoscopic ultrasonography (EUS). This information highlights its value on how to identify a PAMT at its early stage.
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Affiliation(s)
- Xi Li
- Department of General Practice, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Shuangqing Li
- Department of General Practice, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Shenghua Xiong
- Department of Pathology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Zhujun Wang
- Department of Gastroenterology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
| | - Hu Zhang
- Department of Gastroenterology, West China Hospital of Sichuan University, Chengdu, Sichuan, China
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Jang KY, Park HS, Kim KM, Lee H, Kim CY. Plexiform fibromyxoma of the stomach: Fine needle aspiration cytology and histological correlation. Cytopathology 2018; 30:241-244. [DOI: 10.1111/cyt.12624] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/19/2018] [Accepted: 07/15/2018] [Indexed: 12/19/2022]
Affiliation(s)
- Kyu Yun Jang
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Ho Sung Park
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Kyoung Min Kim
- Department of Pathology Chonbuk National University Medical School Jeonju Korea
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Research Institute for Endocrine Sciences Chonbuk National University Jeonju Korea
| | - Ho Lee
- Department of Forensic Medicine Chonbuk National University Medical School Jeonju Korea
| | - Chan Young Kim
- Research Institute of Clinical Medicine of Chonbuk National University‐Biomedical Research Institute of Chonbuk National University Hospital Jeonju Korea
- Department of Surgery Chonbuk National University Medical School Jeonju Korea
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Abszess ungewöhnlicher Genese im Oberbauch eines Jugendlichen. Chirurg 2018; 89:726-729. [DOI: 10.1007/s00104-018-0638-x] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Rohit M, Bhatt A, Cruise M, Wearsch PA, Goldblum JR, Sturgis CD. Endoscopic ultrasound FNA: An illustrated review of spindle cell neoplasms of the upper gastrointestinal tract including a novel case of gastric plexiform fibromyxoma. Diagn Cytopathol 2018; 46:730-738. [PMID: 30043412 DOI: 10.1002/dc.24040] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/08/2018] [Revised: 06/27/2018] [Accepted: 07/05/2018] [Indexed: 02/06/2023]
Abstract
Plexiform fibromyxoma (PF) is a recently-described and rare mesenchymal neoplasm of the gastric wall. A few small case series reports of this spindle cell entity exist in the surgical pathology literature, but to our knowledge no prior endoscopic ultrasound guided fine needle aspiration cytology examples have been reported. In clinical practice, mural gastrointestinal (GI) lesions are often initially evaluated by endoscopic ultrasound guided (EUS) fine needle aspiration (FNA). In addition, newer EUS fine needle biopsy techniques also allow for reliable retrieval of core tissue samples with intact cellular architecture, making EUS histopathologic analyses possible. We report a combined EUS FNA and core biopsy case of PF and correlate the findings with imaging results. The cytomorphology of PF is described and illustrated, and important entities in the differential diagnosis of upper GI spindle cell lesions (including GI stromal tumor, leiomyoma, schwannoma, carcinoid tumor, desmoid-type fibromatosis, and inflammatory fibroid polyp) are reviewed. Illustrated examples of relevant cytomorphologic, cell block histomorphologic and immunohistochemical characteristics are emphasized.
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Affiliation(s)
- Maitreyi Rohit
- Department of Pathology, Case Western Reserve University, Cleveland, Ohio
| | - Amit Bhatt
- Department of Gastrointestinal Medicine, Cleveland Clinic, Cleveland, Ohio
| | - Michael Cruise
- Department of Pathology, Cleveland Clinic, Cleveland, Ohio
| | - Pamela A Wearsch
- Department of Pathology, Case Western Reserve University, Cleveland, Ohio
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Yang MX, Zhao ZH, Yang JF, Chen B, Shen XZ, Wei JG, Wang BY. Imaging findings of gastric plexiform fibromyxoma with a cystic change: A case report and review of literature. Medicine (Baltimore) 2017; 96:e8967. [PMID: 29384895 PMCID: PMC6392900 DOI: 10.1097/md.0000000000008967] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/03/2023] Open
Abstract
RATIONALE Plexiform fibromyxoma (PF) is an extremely rare mesenchymal tumor of the stomach, and its radiological findings have not been well described. Here, we analyzed the imaging features of a case of PF. To our knowledge, this is a rare reported case with a remarkable cystic change in the imaging literature. PATIENT CONCERNS A previously healthy 50-year-old woman presented with a 1-day history of abdominal pain. Then, she underwent computed tomography (CT) and magnetic resonance imaging (MRI). A cystic-solid well-circumscribed extraluminal mass was located in the posterior wall of the gastric upper body. The solid portion appeared as heterogeneous attenuation/intensity with progressive enhancement while the cystic region had no enhancement. DIAGNOSES The potential for malignancy could not be excluded. INTERVENTIONS Laparoscopic partial gastric resection was performed. OUTCOMES Based on pathological findings, a diagnosis of PF was made. The patient was alive without any recurrence or metastasis of the tumor after 2 years of follow-up. LESSONS As far as we know, a gastric PF with a remarkable cystic change has never been reported. Additionally, the tumor exhibited a progressive enhancement pattern which is a characteristic radiographic feature in our case. Our report may help increase the awareness of this rare but important new disease entity.
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Affiliation(s)
| | | | | | | | | | - Jian-Guo Wei
- Department of Pathology, Shaoxing People's Hospital, Shaoxing Hospital of Zhejiang University, Shaoxing, Zhejiang Province, China
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