Unusual Manifestation of Alveolar Rhabdomyosarcoma: A Case Report.

Abstract

Introduction: Rhabdomyosarcomas (RMS) are rare soft-tissue tumours. It accounts for 5% for all childhood cancers whereas around 0.03% in adults.

Case report: A 23-year-old Indian male complained of a progressively enlarging perianal mass associated with rectal bleeding, accompanied by scrotal involvement and tenderness. Diagnostic workup revealed a heterogeneous pelvic mass with extensive lymph node involvement on CT and PET scans. Fine needle aspiration cytology (FNAC) and USG-guided Tru-cut biopsy confirmed the diagnosis of ARMS, supported by immunohistochemical analysis showing positivity for vimentin, Desmin, myogenin, and Myo-D1. This case underscores the diagnostic challenges and comprehensive management required for diagnosis of rare malignancies.

Conclusions: Unusual location, atypical presentation of rhabdomyosarcoma often confuses the clinical diagnosis. Hence minimally invasive techniques for tissue retrieval and ancillary diagnostic tests will confirm the diagnosis and pave the way for proper management.