Why the study?
Primary renal synovial sarcoma is an extremely rare malignancy, with fewer than 200 cases reported in the literature.
Does RNA sequencing identify gene fusions in synovial sarcoma with false-negative FISH results?
Does RNA sequencing identify gene fusions in synovial sarcoma with false-negative FISH results?
RNA sequencing is valuable for diagnosing synovial sarcoma in cases with atypical presentations or false-negative FISH results.
May prompt consideration of synovial sarcoma in young adults with hemorrhagic renal masses; extends sparse case reports on this rare malignancy.
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 12cm 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.
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Teo et al. (2025) studied this question.
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