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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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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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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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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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Cao Z, Lu HZ, Feng XL. Primary renal synovial sarcoma: two cases and review of the literature. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY 2018; 11:4346-4351. [PMID: 31949831 PMCID: PMC6962965] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Subscribe] [Scholar Register] [Received: 07/02/2018] [Accepted: 07/27/2018] [Indexed: 06/10/2023]
Abstract
OBJECTIVE To investigate the clinicopathological features, treatment, and prognosis of primary renal synovial sarcoma. METHOD Retrospectively collected and analyzed clinical and pathological data of two cases of patients with renal primary synovial sarcoma, and reviewed domestic and foreign related literature. RESULTS The first patient was admitted for progressive enlargement of a left renal mass, then she underwent a radical resection of left kidney and adrenal gland, and the final diagnosis was primary renal synovial sarcoma. However, the tumor progressed with multiple nodules in the left peritoneal retroperitoneal space and abdominal wall 3 months later. The second patient was hospitalized for a left lung mass and left renal mass after 3 months. She received left nephrectomy and left lower lobectomy. The final diagnosis was primary renal synovial sarcoma with extensive metastasis in both lungs and pelvic and abdominal cavity. The patient underwent chemotherapy and targeted therapy after operation, and died because of tumor burden after 23 months. CONCLUSION Primary renal synovial sarcoma is a rare soft tissue tumor in the kidney with a poor prognosis. An accurate diagnosis needs consideration of the morphology, immunohistochemistry, and SYT-SSX gene results. Clinically, radical nephrectomy is the main strategy, and adjuvant ifosfamide-based chemotherapy after operation has benefits.
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Affiliation(s)
- Zheng Cao
- Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing, China
| | - Hai-Zhen Lu
- Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing, China
| | - Xiao-Li Feng
- Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College Beijing, China
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Dutt UK, Manikandan R, Dorairajan LN, Srinivas BH. Biphasic renal synovial sarcoma with extensive venous tumor thrombosis: A rare presentation. Urol Ann 2018; 10:339-341. [PMID: 30089998 PMCID: PMC6060589 DOI: 10.4103/ua.ua_9_18] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/16/2023] Open
Abstract
Primary renal synovial sarcoma (SS) is a very rare soft-tissue tumor arising from the kidney. These tumors histologically closely resemble other sarcoma variants. Immunohistochemical and cytogenetic techniques remain the cornerstone in achieving the correct diagnosis. Radical surgical excision is the primary treatment for local tumor control and alleviation of symptoms. Adjuvant chemotherapy, at present, has only a limited role. We report a unique case of a 21-year-old young male with the diagnosis of a biphasic renal SS with extensive venous system thrombosis involving the inferior vena cava, bilateral iliac, and femoral vessels which was managed by radical nephrectomy and tumor thrombectomy followed by adjuvant chemotherapy.
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Affiliation(s)
- Uma Kant Dutt
- Department of Urology, Jawaharlal Institute of Postgraduate Medical Education and Reserach, Puducherry, India
| | - Ramanathinam Manikandan
- Department of Urology, Jawaharlal Institute of Postgraduate Medical Education and Reserach, Puducherry, India
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Ding L, Han A. Primary poorly differentiated monophasic synovial sarcoma of ileum mesenteries with pulmonary metastasis: a case report. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY 2017; 10:11143-11146. [PMID: 31966464 PMCID: PMC6965853] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Subscribe] [Scholar Register] [Received: 09/30/2017] [Accepted: 10/21/2017] [Indexed: 06/10/2023]
Abstract
Primary intra-abdominal synovial sarcomas are rare soft tissue malignancies. Herein, we present a case of poorly differentiated monophasic synovial sarcomain ileum mesenterieswith pulmonary metastasis. The patient was a 47-year-old female with a history of cough with variable expectoration and paroxysmal abdominal pain for two months. The tumor was located in ileum mesenteries and composed of monophasic spindle tumor cells with active mitosis and massive necrosis. Tumor cells were positive for vimentin and BCL-2 by immunohistochemistry staining and positive for SYT gene break apart by dual color break apart fluorescence in situ hybridization assay. The differential diagnosis includes gastrointestinal stromal tumour and other mesenchymal tumour.
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Affiliation(s)
- Li Ding
- Department of Pathology, The First Affiliated Hospital of Sun Yat-sen University Guangzhou, China
| | - Anjia Han
- Department of Pathology, The First Affiliated Hospital of Sun Yat-sen University Guangzhou, China
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