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1
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Pagliuca F, Carraturo E, De Chiara A, Vallese S, Giovannoni I, Alaggio R, Cannella L, Tafuto S, Franco R. Synovial Sarcoma of the Kidney: Diagnostic Pitfalls in a Case with Myxoid Monophasic Differentiation and No Epithelial Biomarkers Expression. Int J Mol Sci 2024; 25:7382. [PMID: 39000489 PMCID: PMC11242046 DOI: 10.3390/ijms25137382] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/20/2024] [Revised: 06/28/2024] [Accepted: 06/30/2024] [Indexed: 07/16/2024] Open
Abstract
Synovial sarcomas are soft tissue tumours of uncertain origin, most commonly found in the upper or lower extremities. They are characterised by distinctive chromosomal rearrangements involving the gene SS18. Synovial sarcomas can occasionally arise also in visceral sites, but retroperitoneal SSs are very unusual. Among them, a few primary renal synovial sarcomas have been described in the scientific literature. Primary renal synovial sarcomas tend to be monophasic and often show cystic changes. Histologically, they can closely resemble other primary kidney tumours, mainly paediatric tumours such as nephroblastoma and clear cell sarcoma of the kidney. In the current work, a primary synovial sarcoma of the kidney with unusual morphological features (extensively myxoid stroma and immunohistochemical positivity for BCOR) is described. Molecular analysis, through targeted RNA sequencing, was of invaluable help in reaching the correct diagnosis. Despite locally advanced disease at presentation, the patient showed an unexpectedly brilliant response to chemotherapy.
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Affiliation(s)
| | - Emma Carraturo
- Pathology Unit, Vanvitelli University Hospital, 80138 Naples, Italy
| | - Anna De Chiara
- Histopathology of Lymphomas and Sarcomas SSD, Istituto Nazionale Tumori-IRCCS-Fondazione "G. Pascale", 80131 Naples, Italy
| | - Silvia Vallese
- Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy
| | | | - Rita Alaggio
- Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy
| | - Lucia Cannella
- S.C. Sarcomas and Rare Tumors, Istituto Nazionale Tumori-IRCCS-Fondazione "G. Pascale", 80131 Naples, Italy
| | - Salvatore Tafuto
- S.C. Sarcomas and Rare Tumors, Istituto Nazionale Tumori-IRCCS-Fondazione "G. Pascale", 80131 Naples, Italy
| | - Renato Franco
- Pathology Unit, Vanvitelli University Hospital, 80138 Naples, Italy
- Department of Mental and Physical Health and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy
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2
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Almohsen SS, Griffin AM, Dickson BC, Demicco EG. Biphasic synovial sarcoma with myoepithelial features: a distinctive variant with a predilection for the foot. Virchows Arch 2024; 484:977-983. [PMID: 37864652 DOI: 10.1007/s00428-023-03679-3] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/26/2023] [Revised: 10/04/2023] [Accepted: 10/06/2023] [Indexed: 10/23/2023]
Abstract
Synovial sarcoma (SS) is a tumor known for its classic monophasic spindle cell or biphasic morphology. However, it exhibits a wide range of histologic variations, leading to diagnostic challenges. Here, we present four cases of molecularly confirmed, biphasic SS originating in the feet and displaying myoepithelial differentiation. The patients were two men and two women with an age range from 19 to 71 years (mean, 45 years). Each tumor showed foci with conventional spindle cell morphology. The epithelial components included areas with nests and cords of epithelioid cells set within a hyalinized and sclerotic stroma. The cytoplasm was clear to pale and eosinophilic. The nuclei were ovoid-round with fine chromatin and small to inconspicuous nucleoli. Mitotic figures were present (2-13 per 10 high-power fields; mean, 6.5). Immunohistochemical studies showed variable staining of the myoepithelial-like regions for low molecular weight keratins, EMA, p63, and S100 protein. Molecular studies confirmed the presence of SS18::SSX1/2 fusion in all four tumors. These cases highlight an unusual variant of synovial sarcoma with an apparent predilection for the distal lower extremity and suggest that differentiation of biphasic synovial sarcoma may be impacted by the anatomic site. Awareness of this variant is important to avoid misclassification and potential treatment and prognostic implications.
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Affiliation(s)
- Shahd S Almohsen
- Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
| | - Anthony M Griffin
- Department of Surgery, Division of Orthopaedic Surgery, University of Toronto Musculoskeletal Oncology Unit, Sinai Health System, Toronto, ON, Canada
| | - Brendan C Dickson
- Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
| | - Elizabeth G Demicco
- Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
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Zhao M, Gan H, Zhong S, Xia Q, Bai Y, Xu J, Teng X, Wang J. Intra-Abdominal Epithelioid Neoplasm With EWSR1::CREB Fusions Involving the Kidney: A Clinicopathologic and Molecular Characterization With an Emphasis on Differential Diagnosis. Mod Pathol 2024; 37:100468. [PMID: 38460673 DOI: 10.1016/j.modpat.2024.100468] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/12/2024] [Revised: 02/19/2024] [Accepted: 03/01/2024] [Indexed: 03/11/2024]
Abstract
Soft tissue neoplasms, harboring fusions between EWSR1 and FUS with genes encoding CREB transcription factors family (ATF1, CREB1, and CREM), are an emerging heterogeneous group of mesenchymal tumors that differ significantly in morphology, immunophenotypes, and behavior. Recently, EWSR1/FUS::CREB fusions have been recognized to define a group of aggressive neoplasms of epithelioid morphology with multiple growth patterns and a striking predilection for mesothelial-lined cavities. These neoplasms presenting as a primary neoplasm of intra-abdominal visceral organs are rare, which could elicit a wide range of differential diagnoses because of their diverse morphologies and immunohistochemical profiles. We report 3 cases of intra-abdominal epithelioid neoplasms with EWSR1::CREB fusions involving the kidney. This study included 2 female patients and 1 male patient, with age at presentation ranging from 17 to 61 years (mean: 32 years). All the patients underwent radical nephrectomy without adjunctive therapies. Grossly, the tumors were large, and all were solitary masses with sizes ranging from 5.6 to 30.0 cm (mean: 14.5 cm). Histologically, the neoplasms showed infiltrating and indistinct borders and were composed predominantly of monomorphic round-to-epithelioid cells with variable amounts of pale-to-clear cytoplasm, arranged in cords, nests, and sheets and embedded in a sclerotic hyalinized stroma with variable lymphoid cuffing either intermixed or at the periphery. Notably, a hemangiopericytomatous growth pattern was commonly seen. Nuclear atypia was mild, and mitotic activity was scarce. Immunohistochemically, all 3 cases were at least focally positive for epithelial membrane antigen and keratin AE1/AE3, with 2 tumors showing focal MUC4 expression and 1 case displaying diffuse CD34 and focal CAIX positivity. Targeted RNA sequencing identified EWSR1::CREM fusion in 2 cases and EWSR1::ATF1 fusion in 1 case. Subsequent fluorescence in situ hybridization analysis confirmed the RNA sequencing results. On follow-up, 1 patient developed multiple spinal bone metastases 5 months after the surgery while the other 2 patients were free of disease 9 and 120 months after diagnosis, respectively. Our findings demonstrate that intra-abdominal epithelioid neoplasms with EWSR1::CREB fusions may rarely occur primarily in the kidney and should be included in the differential diagnosis of primary renal epithelioid mesenchymal neoplasms.
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Affiliation(s)
- Ming Zhao
- Ningbo Clinical Pathology Diagnosis Center, Ningbo, China.
| | - Hualei Gan
- Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China; Institute of Pathology, Fudan University, Shanghai, China
| | - Shan Zhong
- Department of Pathology, The First Affiliated Hospital of Xiamen University, Xiamen, China
| | - Qiuyan Xia
- Department of Pathology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, China
| | - Yanfeng Bai
- Department of Pathology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
| | - Jiayun Xu
- Ningbo Clinical Pathology Diagnosis Center, Ningbo, China
| | - Xiaodong Teng
- Department of Pathology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
| | - Jian Wang
- Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China; Institute of Pathology, Fudan University, Shanghai, China.
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4
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Al-Oudah N, Alanazi S, Alotaibi SS, Alzahrani N. Primary Synovial Sarcoma of the Scrotum. Case Rep Pathol 2023; 2023:7839846. [PMID: 38188535 PMCID: PMC10769634 DOI: 10.1155/2023/7839846] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/08/2022] [Revised: 03/13/2023] [Accepted: 10/13/2023] [Indexed: 01/09/2024] Open
Abstract
The report outlines a case of synovial sarcoma in the scrotal region. A 36-year-old male presented with a scrotal swelling. The lesion was completely resected, whereas the histopathologic examination revealed a spindle cell tumor. The tumor stained positive for pancytokeratin, AE1/AE3, epithelial membrane antigen (EMA), TLE-1, CD99, and BCL-2. The cytogenetic testing showed a chromosomal translocation in the SS18 gene at 18q11.2, consistent with the diagnosis of primary synovial sarcoma. A year later, the patient developed liver, vertebrae, and lung metastasis, which was treated with systemic chemotherapy. Treatment failed to improve the hepatic lesion that was then resected, while the spine and lung lesions were followed by radiotherapy. The patient is now alive and subject to an outstanding follow-up.
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Affiliation(s)
- Nourah Al-Oudah
- Department of Pathology and Laboratory Medicine, King Abdul-Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
| | - Sara Alanazi
- Department of Surgery, King Abdul-Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
| | - Sarah Saad Alotaibi
- Department of Pathology and Laboratory Medicine, King Abdul-Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
| | - Nayef Alzahrani
- Department of Pathology and Laboratory Medicine, King Abdul-Aziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia
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5
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Challa B, Mohanty SK, Jha S, Sampat NY, Sardana R, Lobo A, Sharma S, Arora S, Rath D, Munjal G, Pattnaik N, Jain D, Jain E, Dewan A, Dixit M, Malik V, Shinde S, Balzer BL, Parwani A. SS18-SSX Expression in a Contemporary Cohort of Primary Renal Synovial Sarcoma: A Multi-Institutional Experience of Fourteen Patients. Int J Surg Pathol 2023; 31:1232-1243. [PMID: 36591871 DOI: 10.1177/10668969221143481] [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: 01/03/2023]
Abstract
Primary renal synovial sarcoma is a rare aggressive mesenchymal neoplasm of the kidney that accounts for less than 1% of renal sarcomas. Herein, we describe the clinicopathologic and molecular findings of 14 renal synovial sarcoma patients in one of the largest case series to date and to our knowledge, the only renal synovial sarcoma series to use novel SS18-SSX IHC. Clinicopathologic, IHC, molecular, management, and follow-up data were reviewed and analyzed. Macroscopically, the tumors had either homogeneous, tan-white, and solid (n = 10), variegated and solid (n = 3), or variegated and solid-cystic (n = 1) cut surfaces. Spindle cell (n = 10), round cell (n = 3), and round to epithelioid morphologies (n = 1) were observed. SS18-SSX IHC was positive in all 14 tumors (diffuse, n = 10; multifocal, n = 2; focal, n = 2). All the tumors harbored SS18::SSX1/2 gene rearrangement. Metastases to the liver, brain, and lung (n = 1); liver and bone (n = 1); liver and diaphragm (n = 1) were identified. Adjuvant chemotherapy was administered in 11/12 patients. Follow-up was available for 10 patients (time period range: 5 to 24 months). Four patients died of disease, and six patients are alive with no recurrence or metastasis. As SS18-SSX IHC showed an excellent concordance with the FISH results, this may reliably be used in the IHC panel of spindle/round cell sarcomas of the kidney and as a molecular surrogate for renal synovial sarcoma, particularly in a resource-limited setting. Also, the tumors with focal SS18-SSX expression had lower break apart signals in the FISH assay (19% and 23% in two tumors with focal SS18-SSX IHC positivity).
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Affiliation(s)
- Bindu Challa
- Departments of Pathology and Laboratory Medicine, Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Sambit K Mohanty
- Departments of Pathology and Laboratory Medicine, Advanced Medical and Research Institute, Bhubaneswar, India
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Shilpy Jha
- Departments of Pathology and Laboratory Medicine, Advanced Medical and Research Institute, Bhubaneswar, India
| | - Nakul Y Sampat
- Departments of Pathology and Laboratory Medicine, Advanced Medical and Research Institute, Bhubaneswar, India
| | - Ruhani Sardana
- Departments of Pathology and Laboratory Medicine, Ohio State University Wexner Medical Center, Columbus, OH, USA
| | - Anandi Lobo
- Departments of Pathology and Laboratory Medicine, Kapoor Center of Urology and Pathology, Raipur, India
| | - Shivani Sharma
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Samriti Arora
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Debadarshi Rath
- Departments of Pathology and Laboratory Medicine, Advanced Urology Maxport Hospital, Bhubaneswar, India
| | - Gauri Munjal
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Niharika Pattnaik
- Departments of Pathology and Laboratory Medicine, Advanced Medical and Research Institute, Bhubaneswar, India
| | - Deepika Jain
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Ekta Jain
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Aditi Dewan
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Mallika Dixit
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Vipra Malik
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Sayali Shinde
- Departments of Pathology and Laboratory Medicine, CORE Diagnostics, Gurgaon, India
| | - Bonnie L Balzer
- Departments of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA
| | - Anil Parwani
- Departments of Pathology and Laboratory Medicine, Ohio State University Wexner Medical Center, Columbus, OH, USA
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6
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Jobbagy S, Bilek M, You B, Shah M, Jobbagy Z. A Case of Poorly Differentiated Synovial Sarcoma Arising in a Nasal Cavity Radiation Field: An Unusual Tumor in an Unusual Location. Int J Surg Pathol 2023; 31:76-81. [PMID: 35593119 DOI: 10.1177/10668969221098092] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/03/2023]
Abstract
Synovial sarcomas are high-grade soft tissue sarcomas of primitive mesenchymal origin which are defined by a pathognomonic t(X;18)(p11,q11) translocation, and which occur in pediatric and adult populations. Herein we report a case of a 33-year-old female with a history of nasopharyngeal carcinoma status post radiotherapy, presenting with a poorly differentiated synovial sarcoma of the nasal cavity arising in the radiation field. While the development of radiation-associated sarcoma is a known complication of radiotherapy, to date only 10 cases of synovial sarcoma have been reported to occur in previously irradiated tissues. Moreover, only 1 case of poorly differentiated synovial sarcoma involving the nasopharynx has been described.
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Affiliation(s)
- Soma Jobbagy
- Department of Pathology, 2348Massachusetts General Hospital, Boston, MA, USA.,Department of Pathology, Harvard Medical School, Boston, MA, USA
| | - Melissa Bilek
- Department of Pathology, Immunology and Laboratory Medicine, 12286Rutgers New Jersey Medical School, Newark, NJ, USA
| | - Bei You
- Department of Pathology, Immunology and Laboratory Medicine, 12286Rutgers New Jersey Medical School, Newark, NJ, USA
| | - Maya Shah
- Division of Hematology and Oncology, 24055Newark Beth Israel Medical Center, Newark, NJ, USA
| | - Zsolt Jobbagy
- Department of Pathology, Immunology and Laboratory Medicine, 12286Rutgers New Jersey Medical School, Newark, NJ, USA
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7
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Mastoraki A, Schizas D, Karavolia DM, Smailis A, Machairas N, Vailas M, Michalinos A, Tsapralis D, Anastasiou I, Agrogiannis G. Primary Synovial Sarcoma of the Kidney: Diagnostic Approach and Therapeutic Modalities for a Rare Nosological Entity. J Pers Med 2022; 12:jpm12091450. [PMID: 36143235 PMCID: PMC9504314 DOI: 10.3390/jpm12091450] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/10/2022] [Revised: 08/27/2022] [Accepted: 08/31/2022] [Indexed: 11/29/2022] Open
Abstract
Synovial sarcoma (SS) is a rare mesenchymal entity that represents 5–10% among soft tissue sarcomas (STS). Primary renal synovial sarcoma (PRSS) is an uncommon, rapidly growing tumor, with potential metastatic dissemination. The main prognostic factors of PRSS include tumor size and histologic grade, while translocation t (X; 18) (p11.2; q11.2) (fusion of SYT gene -chromosome 18- with SSX genes (1, 2 or 4)-chromosome X) is the most common pathognomonic sign. Aggressive surgical resection of the tumor along with concomitant regional lymphadenectomy is the treatment of choice for PRSS, while additional en bloc resection of the adjacent affected organs is often performed. To date, the role of preoperative or postoperative chemotherapy remains equivocal. The prognosis of patients with PRSS is poor, as the 5-year survival rate is only 20–30% and further deteriorates when a high mitotic activity is detected. Local recurrence even after complete R0 surgical excision remains the most frequent cause of death. The aim of this review was to meticulously discuss clinical features, histogenesis, and morphological and immunochemical findings of PRSS, while the role of current diagnostic and therapeutic management of this aggressive neoplasm was emphasized.
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Affiliation(s)
- Aikaterini Mastoraki
- First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | - Dimitrios Schizas
- First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | - Despoina Maria Karavolia
- First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | - Antonios Smailis
- First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | - Nikolaos Machairas
- Second Department of Propaedeutic Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
- Correspondence: ; Tel.: +30-6972-300265
| | - Michail Vailas
- First Department of Surgery, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | | | - Dimitrios Tsapralis
- Department of Surgery, General Hospital of Ierapetra, 72200 Ierapetra, Greece
| | - Ioannis Anastasiou
- First University Urology Clinic, National and Kapodistrian University of Athens, Laikon General Hospital, 11527 Athens, Greece
| | - George Agrogiannis
- First Department of Pathology, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece
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8
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Kerper AL, Clarke-Brodber AL, Gupta S, Whalen KM, Nigdelioglu R, Boland JM, Schembri Wismayer DJ, Torres-Mora J, Mejia Acevedo MR, Sudhindran V, Sturgis CD. Malignant rhabdoid tumor: Cyto-histologic correlation and immunohistochemical characterization of a rare pediatric malignancy and its differential diagnoses. Ann Diagn Pathol 2022; 60:152014. [PMID: 35905536 DOI: 10.1016/j.anndiagpath.2022.152014] [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: 06/23/2022] [Accepted: 07/17/2022] [Indexed: 11/18/2022]
Abstract
Malignant rhabdoid tumor of the kidney (MRTK) is a rare aggressive pediatric renal tumor which can be diagnosed via fine-needle aspiration (FNA) cytology and core biopsy. The diagnosis of MRTK is challenging, and requires morphologic, immunohistochemical and clinical correlation to distinguish it from other entities. The differential diagnosis includes Wilms tumor, desmoplastic small round cell tumor, rhabdomyosarcoma, synovial sarcoma, renal medullary carcinoma, and epithelioid sarcoma. Here we describe a case of MRTK diagnosed on renal cytology and core biopsy with immunohistochemistry and follow by nephrectomy with gross and morphologic findings.
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Affiliation(s)
- Allison L Kerper
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | | | - Sounak Gupta
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | - Kirsten M Whalen
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | - Recep Nigdelioglu
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | - Jennifer M Boland
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | | | - Jorge Torres-Mora
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
| | | | | | - Charles D Sturgis
- Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
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9
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Zhao M, He H, Cao D, Fan D, Xu M, Zhang X, Ru G. Solitary Fibrous Tumor With Extensive Epithelial Inclusions. Am J Clin Pathol 2022; 158:35-46. [PMID: 34999741 DOI: 10.1093/ajcp/aqab211] [Citation(s) in RCA: 6] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2021] [Accepted: 11/16/2021] [Indexed: 12/11/2022] Open
Abstract
OBJECTIVES Solitary fibrous tumor (SFT) harboring extensive epithelial inclusions is rare and can stimulate a biphasic neoplasm composed of epithelial and stromal elements. METHODS Three cases of SFT with extensive epithelial inclusions were retrieved. H&E stain, immunohistochemical stain, and targeted next-generation sequencing were performed. RESULTS There were two male patients and one female patient aged 54, 32, and 68 years. All tumors were located in abdominopelvic sites involving the kidney (case 1), omentum (case 2), and prostate (case 3), respectively. Microscopically, all tumors were circumscribed and composed of a background of SFT admixed with randomly embedded glands or cysts, organizing sometimes in a phyllodes-like architecture. The covered epithelium displayed a range of morphologies from simple cystic to stratified and to complex papillary proliferation. Immunohistochemically, both STAT6 and CD34 were expressed in the spindle cells but not in the epithelial inclusions. RNA sequencing revealed fusions involving NAB2~STAT6 in all cases. DNA sequencing demonstrated TERT c.-124C>T mutation in case 1. Prognostic stratification scores were intermediate in case 1 and low in cases 2 and 3. CONCLUSIONS SFT with extensive epithelial inclusions represents a rare but potentially underrecognized variant of SFT and shows compatible molecular features with conventional SFT.
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Affiliation(s)
- Ming Zhao
- Department of Pathology, Laboratory Medicine Center, Cancer Center, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China
| | - Huiying He
- Department of Pathology, Peking University Health Science Centre, Beijing, China
| | - Dengfeng Cao
- Department of Pathology, Shanghai CoreOne Pathology Diagnostics, Shanghai, China
| | - Dage Fan
- Department of Pathology, Second Affiliated Hospital of Fujian Medical University, Quanzhou, China
| | - Mingxin Xu
- Department of Pathology, Tongxiang First People's Hospital, Jiaxing, China
| | - Xin Zhang
- Department of Pathology, Laboratory Medicine Center, Cancer Center, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China
| | - Guoqing Ru
- Department of Pathology, Laboratory Medicine Center, Cancer Center, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, China
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10
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Caliò A, Cheng L, Martignoni G, Zhang S, Brunelli M, Eble JN. Mixed epithelial and stromal tumours of the kidney with malignant transformation: a clinicopathological study of four cases. Pathology 2022; 54:707-720. [PMID: 35697534 DOI: 10.1016/j.pathol.2022.03.011] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2021] [Revised: 03/02/2022] [Accepted: 03/10/2022] [Indexed: 11/18/2022]
Abstract
Mixed epithelial and stromal tumour of the kidney is a complex benign neoplasm in which malignancy rarely arises. In this study, we report four mixed epithelial and stromal tumours in which sarcoma or carcinoma developed. In the first, a multifocal adenocarcinoma arose and areas of transition from benign to malignant epithelium were observed. Oestrogen and progesterone receptors were diffusely present in the nuclei of the spindle cell stroma of the benign component. The second was a sarcoma in which benign epithelial elements were intermixed. Outside the renal parenchyma, clusters of small benign glands surrounded by oestrogen receptor-positive benign stroma were present, supporting the diagnosis of mixed epithelial and stromal tumour. Fluorescence in situ hybridisation for SYT-SSX translocation and immunohistochemical results, specifically TLE1 -ativity, argued against primary renal synovial sarcoma. The patient died 24 months after surgery. The third tumour consisted of small blue round cells, positive for epithelial membrane antigen, BCL2, CD99, and FLI1. Throughout the tumour, the presence of benign appearing branching tubules in fibromuscular stroma, reactive for smooth muscle actin, desmin and progesterone receptor, supported the diagnosis of mixed epithelial and stromal tumour in which a small round blue cell sarcoma with EWSR1 rearrangement arose. In the fourth tumour, adenocarcinoma with papillary architecture arose in a typical mixed epithelial and stromal tumour. In summary, we present four cases of mixed epithelial and stromal tumour with malignant transformation, two showing carcinomatous and the other two with sarcomatous transformation. Identification of typical benign looking elements and the absence of SYT-SSX translocation are helpful in recognition of this entity.
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Affiliation(s)
- Anna Caliò
- Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Liang Cheng
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA; Department of Urology, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Guido Martignoni
- Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy
| | - Shaobo Zhang
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA
| | - Matteo Brunelli
- Department of Diagnostic and Public Health, Section of Pathology, University of Verona, Verona, Italy
| | - John N Eble
- Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
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11
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Peng Y, Chen T, Zhang D, Wu C, Lei T, Shi Y, Xia C, Li Q. Primary Sclerosing Epithelioid Fibrosarcoma of the Kidney: A Case Report and Review of the Literature. Int J Surg Pathol 2021; 30:437-442. [PMID: 34894816 DOI: 10.1177/10668969211065107] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
Abstract
Sclerosing epithelioid fibrosarcoma (SEF) is a rare variant of fibrosarcoma. We report one case of primary kidney SEF occurring in a 38-year-old man. Microscopically, epithelioid neoplastic cells are mainly arranged in cords and nests embedded in the dense sclerosing stroma. Diffuse immunohistochemical staining for MUC4 in neoplastic cells and the presence of the EWSR1 gene split by fluorescence in situ hybridization (FISH) analysis confirmed the histological diagnosis. Primary kidney SEF is extremely rare, the differential diagnosis strategy broadly includes a series of tumors with epithelioid morphology and sclerosing matrix, mainly including sclerosing variants of clear cell sarcoma of the kidney (CCSK), renal synovial sarcoma (SS), renal solitary fibrous tumor (SFT), metanephric stromal tumor (MST), sclerosing perivascular epithelioid cell tumor (PEComa), and carcinomas, and immunohistochemical expression of MUC4 and evidence of the EWSR1 gene split are helpful in making a definite diagnosis.
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Affiliation(s)
- Yan Peng
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Tongbing Chen
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Dachuan Zhang
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Chao Wu
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Ting Lei
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Yongqiang Shi
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Cunyan Xia
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
| | - Qing Li
- 117850The Third Affiliated Hospital of Soochow University, Changzhou First People's Hospital, Changzhou City, Jiangsu Province, China
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12
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Agaimy A, Hartmann A. [SMARCB1(INI1)-deficient renal cell carcinoma: medullary and beyond : Evolving concepts]. DER PATHOLOGE 2021; 42:571-577. [PMID: 34609565 DOI: 10.1007/s00292-021-00985-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 08/11/2021] [Indexed: 10/20/2022]
Abstract
During the last decades, the SWI/SNF chromatin-remodeling complex has received enormous recognition as a major player in the molecular pathogenesis of diverse neoplasms. Accordingly, SWI/SNF defects affecting different subunits of the complex became defining genetic features in the nosology of different neoplastic entities. In the kidney, loss of SMARCB1(INI1) as a major component of the SWI/SNF complex has emerged as the defining genetic marker for renal medullary carcinoma and pediatric malignant rhabdoid tumor. Diagnosis of these two rare entities is based on a set of defined demographic, clinicopathological, immunophenotypic, and genetic (SMARCB1 loss) criteria. Moreover, the sickle cell trait is considered a prerequisite for renal medullary carcinoma. Current knowledge illustrates that SMARCB1 loss is encountered in three major tumor categories in the kidney: (1) histologically defined neoplasms that are primarily driven by de novo SMARCB1 loss (renal medullary carcinoma and malignant rhabdoid tumor); (2) SMRACB1-deficient renal cell carcinoma (RCC) with variable non-specific histology ranging from collecting duct-like, papillary high-grade (papillary type 2), or medullary-like (lacking sickle cell trait), to fully undifferentiated; and (3) biphasic (dedifferentiated) RCC showing a variable SMARCB1-deficient undifferentiated component. The latter variant most frequently originates from pre-existing clear cell RCC but may rarely superimpose on papillary or chromophobe RCC. This review summarizes the major defining features of the emerging SMARCB1-deficient renal neoplasms. All SMARCB1-deficient carcinomas have a poor prognosis in common. Therefore, exact diagnosis of these tumors is a prerequisite for studies investigating new therapies.
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Affiliation(s)
- Abbas Agaimy
- Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
| | - Arndt Hartmann
- Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Krankenhausstraße 8-10, 91054, Erlangen, Deutschland
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13
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Agaimy A, Hartmann A, Trpkov K, Hes O. Undifferentiated and dedifferentiated urological carcinomas: lessons learned from the recent developments. Semin Diagn Pathol 2021; 38:152-162. [PMID: 34579992 DOI: 10.1053/j.semdp.2021.09.004] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/11/2021] [Accepted: 09/13/2021] [Indexed: 02/07/2023]
Abstract
Loss of the morphological and immunophenotypic characteristics of a neoplasm is a well-known phenomenon in surgical pathology and occurs across different tumor types in almost all organs. This process may be either partial, characterized by transition from well differentiated to undifferentiated tumor component (=dedifferentiated carcinomas) or complete (=undifferentiated carcinomas). Diagnosis of undifferentiated carcinoma is significantly influenced by the extent of sampling. Although the concept of undifferentiated and dedifferentiated carcinoma has been well established for other organs (e.g. endometrium), it still has not been fully defined for urological carcinomas. Accordingly, undifferentiated/ dedifferentiated genitourinary carcinomas are typically lumped into the spectrum of poorly differentiated, sarcomatoid, or unclassified (NOS) carcinomas. In the kidney, dedifferentiation occurs across all subtypes of renal cell carcinoma (RCC), but certain genetically defined RCC types (SDH-, FH- and PBRM1- deficient RCC) seem to have inherent tendency to dedifferentiate. Histologically, the undifferentiated component displays variable combination of four patterns: spindle cells, pleomorphic giant cells, rhabdoid cells, and undifferentiated monomorphic cells with/without prominent osteoclastic giant cells. Any of these may occasionally be associated with heterologous mesenchymal component/s. Their immunophenotype is often simple with expression of vimentin and variably pankeratin or EMA. Precise subtyping of undifferentiated (urothelial versus RCC and the exact underlying RCC subtype) is best done by thorough sampling supplemented as necessary by immunohistochemistry (e.g. FH, SDHB, ALK) and/ or molecular studies. This review discusses the morphological and molecular genetic spectrum and the recent develoments on the topic of dedifferentiated and undifferentiated genitourinary carcinomas.
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Affiliation(s)
- Abbas Agaimy
- Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Erlangen, Germany.
| | - Arndt Hartmann
- Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, University Hospital, Erlangen, Germany
| | - Kiril Trpkov
- Department of Pathology and Laboratory Medicine, Alberta Precision Labs and University of Calgary, Calgary, Alberta, Canada
| | - Ondrej Hes
- Department of Pathology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic
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Primary Renal Synovial Sarcomas: PAX 8 Immunostaining and Unusual Molecular Findings. Appl Immunohistochem Mol Morphol 2021; 28:221-228. [PMID: 30789354 DOI: 10.1097/pai.0000000000000736] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/13/2023]
Abstract
Synovial sarcoma (SS) is a high-grade sarcoma that rarely involves the kidney. Eleven renal SS cases were collected in our institution. Immunostaining features and molecular changes of renal SS were further elucidated in this study. PAX 8 was focally positive in 1 monophasic SS and diffusely positive in both the spindled and epithelial components in 1 biphasic SS. These 2 PAX8 expressing renal SS were confirmed by the presence of the classic t(X;18) translocation. Our study also revealed the presence of extra copies of the SS18 in one biphasic SS and one poorly differentiated SS. The SS18 (SYT) gene rearrangement is useful for confirming the SS diagnosis. However, a negative test (FISH or RT-PCR) does not rule out the diagnosis. Although not as common, other chromosomal alterations, such as polysomy 18, indeed occur in renal synovial sarcoma.
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Blas L, Roberti J. Primary Renal Synovial Sarcoma and Clinical and Pathological Findings: a Systematic Review. Curr Urol Rep 2021; 22:25. [PMID: 33704587 DOI: 10.1007/s11934-021-01038-w] [Citation(s) in RCA: 9] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 01/18/2021] [Indexed: 12/27/2022]
Abstract
PURPOSE OF REVIEW To update epidemiological, diagnostic, and therapeutic information on primary synovial sarcoma of the kidney. RECENT FINDINGS A total of 96 studies were analyzed; age at presentation was 38.6±14.2 years, predominant location of tumor was right kidney; frequent reported symptoms at diagnosis were hematuria and pain. For definitive diagnosis, cytogenetic technique was used. Detected oncogene was available in 37.8% cases with fusion of SS18-SSX in most patients. Surgery is treatment of choice, with adjuvant chemotherapy; most frequently ifosfamide-based associated with doxorubicin or epirubicin. Overall median survival was 34 months. Mortality was 29% of the cases which reported death and the recurrence rate was 39.8%. Risk of death was increased in patients with metastases at diagnosis Primary RSS occurs more often in young men. RSS often presents with symptoms and in an advanced stage. Surgical treatment is the most commonly used and chemotherapy for advanced or recurrent treatment.
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Affiliation(s)
- Leandro Blas
- Hospital Aleman de Buenos Aires, Buenos Aires, Argentina
| | - Javier Roberti
- National Scientific and Technical Research Council - CONICET, Buenos Aires, Argentina.
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16
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Teng F, Chen D, Li Y, Fang W, Yang S, Shang J, Liu G, Cui Y, Zhao Y, Lian G. Primary cardiac synovial sarcoma: a clinicopathological, immunohistochemical, and molecular genetics study of five clinical cases. Cardiovasc Pathol 2020; 50:107286. [PMID: 32947039 DOI: 10.1016/j.carpath.2020.107286] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/19/2020] [Revised: 09/02/2020] [Accepted: 09/02/2020] [Indexed: 11/16/2022] Open
Abstract
BACKGROUND Primary cardiac synovial sarcoma was an exceedingly rare tumor that less reported. The study investigated the clinicopathologic, immunohistochemical, and molecular features of primary cardiac synovial sarcoma. METHODS A total of five cardiac synovial sarcoma cases were assessed and reviewed using H&E, immunohistochemical and fluorescence in situ hybridization staining methods. Clinicopathological data were retrospectively analyzed and followed up. RESULTS The cases occurred in four males and one female ranging in age from 23 to 48 years (mean, 32 years). The tumors were grossly large and solid (7.4-13.7 cm; mean 8.6 cm). Microscopically, clinical cases were biphasic (n = 2) and monophasic (n = 3) types and were diffusely immunoreactive for EMA, vimentin, and BCL-2. All cases demonstrated SS18 rearrangement by fluorescence in situ hybridization staining. Clinically, three patients died within 1 year after surgery, while one patient had bone metastasis and still carried the disease. One last patient underwent a heart transplant and survived without evidence of the disease. CONCLUSION Cardiac synovial sarcoma was an aggressive tumor whose differentiation may be a continuous and complex morphologic spectrum. SS18 rearrangement demonstration by fluorescence in situ hybridization was decisive in our study for differential diagnosis of cardiac synovial sarcoma and other tumors. Cardiac synovial sarcoma usually endured poor survival rates. Patients in advanced stages may undergo heart transplantation as a means of improving their survival rates.
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Affiliation(s)
- Fei Teng
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Dong Chen
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China.
| | - Yanwei Li
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Wei Fang
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Shaomin Yang
- Department of Pathology, Peking University Health Science Center, Beijing, China
| | - Jianfeng Shang
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Gonghan Liu
- Department of Pathology, Liangzhou Hospital of Wuwei City, Wuwei City, Gansu Province, China
| | - Yayan Cui
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Yanli Zhao
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
| | - Guoliang Lian
- Department of Pathology, Affiliated Anzhen Hospital of Capital Medical University, Beijing, China
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Retroperitoneal Sarcomas: An Update on the Diagnostic Pathology Approach. Diagnostics (Basel) 2020; 10:diagnostics10090642. [PMID: 32867125 PMCID: PMC7555595 DOI: 10.3390/diagnostics10090642] [Citation(s) in RCA: 25] [Impact Index Per Article: 5.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/20/2020] [Revised: 08/24/2020] [Accepted: 08/26/2020] [Indexed: 02/07/2023] Open
Abstract
Retroperitoneal sarcomas are a heterogenous group of rare tumors arising in the retroperitoneum. Retroperitoneal sarcomas comprise approximately 10% of all soft tissue sarcomas. Though any soft tissue sarcoma histologic types may arise in the retroperitoneal space, liposarcoma (especially well-differentiated and dedifferentiated types) and leiomyosarcoma do so most commonly. Retroperitoneal sarcomas are diagnostically challenging, owing to their diversity and morphological overlap with other tumors arising in the retroperitoneum. An accurate diagnosis is necessary for correct management and prognostication. Herein, we provide an update on the diagnostic approach to retroperitoneal sarcomas and review their key histologic findings and differential diagnoses.
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Blas L, Vitagliano GJ, Ringa M, Rios Pita H, Ameri CA. Aggressive primary renal synovial sarcoma in a young male: Case report and literature review. JOURNAL OF CLINICAL UROLOGY 2020. [DOI: 10.1177/2051415820926290] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]
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19
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Ooms AH, Vujanić GM, D’Hooghe E, Collini P, L’Herminé-Coulomb A, Vokuhl C, Graf N, van den Heuvel-Eibrink MM, de Krijger RR. Renal Tumors of Childhood-A Histopathologic Pattern-Based Diagnostic Approach. Cancers (Basel) 2020; 12:cancers12030729. [PMID: 32204536 PMCID: PMC7140051 DOI: 10.3390/cancers12030729] [Citation(s) in RCA: 20] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2020] [Revised: 03/04/2020] [Accepted: 03/07/2020] [Indexed: 12/15/2022] Open
Abstract
Renal tumors comprise approximately 7% of all malignant pediatric tumors. This is a highly heterogeneous group of tumors, each with its own therapeutic management, outcome, and association with germline predispositions. Histopathology is the key in establishing the correct diagnosis, and therefore pathologists with expertise in pediatric oncology are needed for dealing with these rare tumors. While each tumor shows different histologic features, they do have considerable overlap in cell type and histologic pattern, making the diagnosis difficult to establish, if based on routine histology alone. To this end, ancillary techniques, such as immunohistochemistry and molecular analysis, can be of great importance for the correct diagnosis, resulting in appropriate treatment. To use ancillary techniques cost-effectively, we propose a pattern-based approach and provide recommendations to aid in deciding which panel of antibodies, supplemented by molecular characterization of a subset of genes, are required.
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Affiliation(s)
- Ariadne H.A.G. Ooms
- Princess Máxima Center for pediatric oncology, 3584 CS Utrecht, The Netherlands (M.M.v.d.H.-E.)
- Pathan B.V., 3045 PM Rotterdam, The Netherlands
| | | | - Ellen D’Hooghe
- Department of Pathology, Oslo University Hospital, Rikshospitalet, 0372 Oslo, Norway;
| | - Paola Collini
- Department of Diagnostic Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy;
| | - Aurore L’Herminé-Coulomb
- Sorbonne Université, Department of Pathology, Hôpital Armand Trousseau, Hopitaux Universitaires Est Parisien, 75012 Paris, France;
| | - Christian Vokuhl
- Section of Pediatric Pathology, Department of Pathology, University Hospital Bonn, 53127 Bonn, Germany;
| | - Norbert Graf
- Department of Pediatric Oncology & Hematology, Saarland University, D-66421 Homburg, Germany;
| | | | - Ronald R. de Krijger
- Princess Máxima Center for pediatric oncology, 3584 CS Utrecht, The Netherlands (M.M.v.d.H.-E.)
- Department of Pathology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands
- Correspondence: ; Tel.: +31-088-9727272
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20
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Primary Intraosseous Synovial Sarcoma with Molecular Confirmation: Expanding and Clarifying the Spectrum of This Rare Neoplasm. Case Rep Pathol 2020; 2020:5492754. [PMID: 32082672 PMCID: PMC7011484 DOI: 10.1155/2020/5492754] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/18/2019] [Revised: 01/10/2020] [Accepted: 01/14/2020] [Indexed: 12/18/2022] Open
Abstract
Synovial sarcoma is a well-known malignant tumor usually originating within deep soft tissues of the lower extremities of adolescents and young adults. Rare radiologically confirmed examples of primary bone synovial sarcoma have been documented, generally in isolated case reports. Herein, we report two cases of primary intraosseous synovial sarcoma, with molecular confirmation, involving the left humerus of a 45-year-old female and the right fourth metatarsal bone in a 36-year-old male. Additionally, we clarify the spectrum of primary intraosseous synovial sarcoma by separately analyzing reported cases with radiographic confirmation of bone origin and molecular support for the diagnosis. There are clinicopathologic differences between those tumors with documented molecular confirmation and those lacking such confirmation, specifically regarding their anatomic distribution (p < 0.0001). Regarding the radiology of our two cases, the humeral lesion appeared almost entirely intramedullary without soft tissue extension; the midfoot lesion demonstrated a destructive, metatarsal-centered bone lesion, initially thought clinically to represent primary bone osteosarcoma. The diagnoses of monophasic synovial sarcoma were rendered via core needle biopsies, with molecular FISH confirmation of SYT gene rearrangement. Clinical follow-up data was only available for the female patient with the primary humeral lesion, who underwent surgical resection, with no local recurrence or distant metastasis at 7 months postsurgery. To our knowledge, these are the first reported examples of molecularly confirmed, primary intraosseous synovial sarcomas of the humerus and metatarsal bones. Primary intraosseous synovial sarcomas with molecular confirmation differ clinically from those lacking it; however, the demographic features and metastatic potential appear similar to primary soft tissue synovial sarcoma.
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Cai HJ, Cao N, Wang W, Kong FL, Sun XX, Huang B. Primary renal synovial sarcoma: A case report. World J Clin Cases 2019; 7:3098-3103. [PMID: 31624760 PMCID: PMC6795726 DOI: 10.12998/wjcc.v7.i19.3098] [Citation(s) in RCA: 9] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/24/2019] [Revised: 06/20/2019] [Accepted: 07/03/2019] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Synovial sarcoma, a rare mesenchymal tumor type with unclear histological origin and direction of differentiation, accounts for 6%–10% of soft tissue tumors. It is mainly located near the joints and tendons of the limbs, and occurs primarily in children or young adults. Primary renal synovial sarcoma (PRSS) is very rare, accounting for approximately 1% of synovial sarcomas. It is a spindle cell tumor type affecting mesenchymal tissue, and has morphological, genetic, and clinical characteristics, and a certain degree of epithelial differentiation. It is highly malignant and has the fourth highest incidence among soft tissue sarcomas. Here, we report a case of PRSS and share some valuable information about the disease.
CASE SUMMARY A 54-year-old male patient was admitted to the hospital for a space-occupying lesion in the right kidney for 2 d upon ultrasound examination. The patient had no cold or fever; no frequency, urgency or pain of urination; and no other discomfort. The results of a hemogram, blood biochemistry, and tumor markers were in the normal range. The patient was examined by computed tomography (CT), which indicated the presence of a soft tissue density shadow with a diameter of approximately 6.8 cm in the right renal pelvis area, showing uneven enhancement. Ultrasound indicated a cystic solid mass of approximately 6.8 cm × 6.5 cm in the right kidney, with an unclear boundary and irregular shape. Meanwhile, color Doppler flow imaging showed dotted blood flow signals in the periphery and interior. Contrast-enhanced ultrasound (CEUS) showed "slow in and fast out" hyperenhancement of the right renal mass after contrast agent injection. The postoperative pathological diagnosis was (right kidney) synovial sarcoma. Despite postoperative adjuvant chemotherapy, tumor recurrence was detected two years later.
CONCLUSION PRSS is a rare malignant tumor. To date, no characteristic imaging findings have been observed. The diagnosis is confirmed primarily through postoperative pathological immunohistochemistry and SS18 (SYT) gene detection. In this case, CEUS was used preoperatively. We found that PRSS has the characteristic of "slow in and fast out" hyperenhancement, and its particular characteristics have diagnostic value. Postoperative adjuvant chemotherapy is not very effective.
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Affiliation(s)
- Huai-Jie Cai
- The Fourth School of Clinical Medicine of Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China
| | - Nan Cao
- The Fourth School of Clinical Medicine of Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China
| | - Wei Wang
- The Fourth School of Clinical Medicine of Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China
| | - Fan-Lei Kong
- The Fourth School of Clinical Medicine of Zhejiang Chinese Medical University, Hangzhou 310053, Zhejiang Province, China
| | - Xi-Xi Sun
- Department of Ultrasound, Xixi Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou 310023, Zhejiang Province, China
| | - Bin Huang
- Department of Ultrasound, Xixi Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou 310023, Zhejiang Province, China
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22
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Morrell TJ, Xiong Y, Deng A, Dresser K, O’Donnell P, Cornejo KM. Expression of TLE1 in Malignant Melanoma With Spindle Cell Morphology: A Potential Diagnostic Pitfall. Int J Surg Pathol 2018; 27:259-262. [DOI: 10.1177/1066896918805137] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/17/2022]
Abstract
Objectives. Transducer-like enhancer of split 1 (TLE1) immunohistochemistry is widely used as a biomarker of synovial sarcoma. Spindle cell or desmoplastic melanoma can morphologically mimic synovial sarcoma. The aim of this study was to investigate the expression of TLE1 in melanomas with a spindle cell morphology. Methods. A search of the surgical pathology files resulted in 57 cases of melanomas diagnosed with a spindle cell or desmoplastic component. After review, 8 cases had no definitive dermal spindle cell component and 7 cases had insufficient tissue remaining and were excluded from the study. A total of 42 melanomas were examined for TLE1 immunohistochemistry using a mouse monoclonal antibody (Cell Marque, clone 1F5). Strength and percentage of nuclear TLE1 positivity was graded on a scale from 0 to 3+. Staining for TLE1 was considered positive for 2 to 3+ and negative for 0 to 1+. Results. Nuclear TLE1 expression was identified in 24 (57%) of the 42 melanoma cases with spindle cell morphology (2+, n = 14; 3+, n = 10). TLE1 was considered negative in 18 cases (43%), of which most contained weak staining (1+, n = 14 [33%]) and only a small subset did not show any staining (0, n = 4 [10%]). Conclusion. TLE1 frequently highlights melanomas with spindle cell morphology and is a potential diagnostic pitfall. Therefore, when evaluating spindle cell tumors in which the differential may include both a melanoma and synovial sarcoma, TLE1 expression should be interpreted with caution and in conjunction with an immunohistochemical panel.
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Affiliation(s)
- Travis J. Morrell
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
| | - Yiqin Xiong
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
| | - April Deng
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
| | - Karen Dresser
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
| | - Patrick O’Donnell
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
| | - Kristine M. Cornejo
- University of Massachusetts Medical School, UMass Memorial Medical Center, Worcester, MA, USA
- Massachusetts General Hospital, Boston, MA, USA
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El Chediak A, Mukherji D, Temraz S, Nassif S, Sinno S, Mahfouz R, Shamseddine A. Primary synovial sarcoma of the kidney: a case report of complete pathological response at a Lebanese tertiary care center. BMC Urol 2018; 18:40. [PMID: 29751751 PMCID: PMC5948733 DOI: 10.1186/s12894-018-0358-z] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/14/2016] [Accepted: 05/03/2018] [Indexed: 12/17/2022] Open
Abstract
Background Primary synovial sarcoma of the kidney is a rare type of soft tissue sarcoma. Its presenting features can resemble those of other renal tumors; rendering its early diagnosis, a dilemma. Several cases of renal synovial sarcoma have been reported in the literature with varying treatment options and outcomes. This article describes a rare case of primary renal synovial sarcoma and reviews all cases in the literature. Case presentation A 26-year-old male presented with flank pain and hematuria. Initially diagnosed with Wilm’s tumor, revision of pathology and histology, along with the immunohistochemical profile, confirmed, nevertheless, the diagnosis of primary monophasic synovial sarcoma of the kidney with the SYT-SSX2 fusion transcript. Follow-up, post nephrectomy, revealed recurrence within the lungs and at the surgical bed. Surgical resection followed by adjuvant chemotherapy regimen constituting of Doxorubicin and Ifosfamide, achieved complete pathological response. Conclusion In this case report, we emphasize the need for accurate diagnosis and prompt treatment. We propose multimodality treatment approach including surgery along with anthracycline-based chemotherapy to induce complete remission.
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Affiliation(s)
- Alissar El Chediak
- Department of Internal Medicine, Division of Hematology/Oncology, American University of Beirut - Medical Center, P.o.Box: 11-0236, Riad El Solh, Beirut, 110 72020, Lebanon
| | - Deborah Mukherji
- Department of Internal Medicine, Division of Hematology/Oncology, American University of Beirut - Medical Center, P.o.Box: 11-0236, Riad El Solh, Beirut, 110 72020, Lebanon
| | - Sally Temraz
- Department of Internal Medicine, Division of Hematology/Oncology, American University of Beirut - Medical Center, P.o.Box: 11-0236, Riad El Solh, Beirut, 110 72020, Lebanon
| | - Samer Nassif
- Department of Pathology and Laboratory Medicine, American University of Beirut - Medical Center, Beirut, Lebanon
| | - Sara Sinno
- Department of Pathology and Laboratory Medicine, American University of Beirut - Medical Center, Beirut, Lebanon
| | - Rami Mahfouz
- Department of Pathology and Laboratory Medicine, American University of Beirut - Medical Center, Beirut, Lebanon
| | - Ali Shamseddine
- Department of Internal Medicine, Division of Hematology/Oncology, American University of Beirut - Medical Center, P.o.Box: 11-0236, Riad El Solh, Beirut, 110 72020, Lebanon.
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Establishment and proteomic characterization of a novel synovial sarcoma cell line, NCC-SS2-C1. In Vitro Cell Dev Biol Anim 2018; 54:392-399. [DOI: 10.1007/s11626-018-0237-7] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/22/2017] [Accepted: 01/25/2018] [Indexed: 01/14/2023]
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Renal rupture - Not what it seems. Urol Case Rep 2017; 16:132-134. [PMID: 29276683 PMCID: PMC5730422 DOI: 10.1016/j.eucr.2017.11.033] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/31/2017] [Revised: 11/29/2017] [Accepted: 11/30/2017] [Indexed: 11/22/2022] Open
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Arias-Stella JA, Williamson SR. Updates in Benign Lesions of the Genitourinary Tract. Surg Pathol Clin 2015; 8:755-87. [PMID: 26612226 DOI: 10.1016/j.path.2015.09.001] [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: 11/19/2022]
Abstract
The genitourinary tract is a common site for new cancer diagnosis, particularly for men. Therefore, cancer-containing specimens are very common in surgical pathology practice. However, many benign neoplasms and nonneoplastic, reactive, and inflammatory processes in the genitourinary tract may mimic or cause differential diagnostic challenges with malignancies. Emerging clinicopathologic, immunohistochemical, and molecular characteristics have shed light on the pathogenesis and differential diagnosis of these lesions. This review addresses differential diagnostic challenges related to benign genitourinary tract lesions in the kidney, urinary bladder, prostate, and testis, with emphasis on recent advances in knowledge and areas most common in diagnostic practice.
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Affiliation(s)
- Javier A Arias-Stella
- Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, MI, USA
| | - Sean R Williamson
- Department of Pathology and Laboratory Medicine, Henry Ford Health System, Detroit, MI, USA.
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Thway K, Fisher C. Synovial sarcoma: defining features and diagnostic evolution. Ann Diagn Pathol 2014; 18:369-80. [PMID: 25438927 DOI: 10.1016/j.anndiagpath.2014.09.002] [Citation(s) in RCA: 208] [Impact Index Per Article: 18.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/25/2014] [Accepted: 09/15/2014] [Indexed: 02/06/2023]
Abstract
Synovial sarcoma (SS) is a malignant mesenchymal neoplasm with variable epithelial differentiation, with a propensity to occur in young adults and which can arise at almost any site. It is generally viewed and treated as a high-grade sarcoma. As one of the first sarcomas to be defined by the presence of a specific chromosomal translocation leading to the production of the SS18-SSX fusion oncogene, it is perhaps the archetypal "translocation-associated sarcoma," and its translocation remains unique to this tumor type. Synovial sarcoma has a variety of morphologic patterns, but its chief forms are the classic biphasic pattern, of glandular or solid epithelial structures with monomorphic spindle cells and the monophasic pattern, of fascicles of spindle cells with only immunohistochemical or ultrastructural evidence of epithelial differentiation. However, there is significant morphologic heterogeneity and overlap with a variety of other neoplasms, which can cause diagnostic challenge, particularly as the immunoprofile is varied, SS18-SSX is not detected in 100% of SSs, and they may occur at unusual sites. Correct diagnosis is clinically important, due to the relative chemosensitivity of SS in relation to other sarcomas, for prognostication and because of the potential for treatment with specific targeted therapies in the near future. We review SS, with emphasis on the diagnostic spectrum, recent immunohistochemical and genetic findings, and the differential diagnosis.
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Affiliation(s)
- Khin Thway
- Sarcoma Unit, Royal Marsden Hospital, London UK.
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