SS18-rearranged false negative FISH synovial sarcoma: A rare case of primary renal synovial sarcoma with cryptic genetic rearrangement

Primary renal synovial sarcoma is an extremely rare malignancy with fewer than 200 cases reported in the literature. We present a case of a 34-year-old female who presented to hospital with right flank pain and was found to have a 12 cm renal mass on imaging complicated by haemorrhage and requiring...

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Vydáno v:Current problems in cancer. Case reports Ročník 19; s. 100384
Hlavní autoři: Teo, Kai Zong, Wright, Dale, Kim, Lawrence, Dinh, Phuong, Kim, Lauren
Médium: Journal Article
Jazyk:angličtina
Vydáno: Elsevier Inc 01.09.2025
Elsevier
Témata:
Cryptic rearrangement
FISH
Fluorescence in-situ hybridisation
Hematology, Oncology, and Palliative Medicine
Primary renal synovial sarcoma
Synovial sarcoma
Fluorescence in-situ hybridisation
FISH
Cryptic rearrangement
Primary renal synovial sarcoma
Synovial sarcoma
ISSN:2666-6219, 2666-6219
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Shrnutí:Primary renal synovial sarcoma is an extremely rare malignancy with fewer than 200 cases reported in the literature. We present a case of a 34-year-old female who presented to hospital with right flank pain and was found to have a 12 cm renal mass on imaging complicated by haemorrhage and requiring emergency nephrectomy. Histopathological examination revealed a monophasic spindle cell tumour with large areas of necrosis, high-grade morphology and positive staining of SS18-SSX and TLE1 immunohistochemistry, consistent with a poorly differentiated synovial sarcoma. Fluorescence in-situ hybridisation (FISH) testing for SS18 showed no rearrangement. However, RNA sequencing identified a SS18::SSX2 gene fusion transcript that likely reflects a cryptic structural gene rearrangement. This case highlights the importance of molecular testing in diagnosing synovial sarcoma, particularly in cases with atypical presentations or false-negative FISH results.
ISSN:2666-6219
2666-6219
DOI:10.1016/j.cpccr.2025.100384