Pediatric Synovial Sarcoma with SMARCB1 Loss and Aberrant ALK Expression Mimicking Infantile Fibrosarcoma
This submission includes both targeted RNA and DNA sequencing data from a pediatric case of monophasic synovial sarcoma with SMARCB1 (INI-1) loss and aberrant ALK expression. RNA sequencing identified an SS18::SSX2 fusion, confirming the diagnosis of synovial sarcoma. Targeted DNA panel sequencing was performed to evaluate clinically relevant mutations, copy number variations, and potential therapeutic markers. This dataset illustrates the value of integrated molecular profiling in diagnostically challenging pediatric spindle cell tumors.