Case report highlights spindle cell rhabdomyosarcoma management, revealing NRAS mutation and emphasizing early diagnosis.
Background Para‐testicular rhabdomyosarcoma (RMS) is a rare and aggressive malignancy primarily affecting children and adolescents, with peak incidence between ages 2 and 5 years. Of the histological variants of RMS, the spindle cell type of RMS is particularly uncommon, accounting for approximately 5% of cases. Effective management typically involves a combination of surgery, chemotherapy, and sometimes radiation therapy, with prognosis influenced by factors such as tumor stage and genetic profile. Early diagnosis is essential for improving survival rates and reducing recurrence risk. Case Presentation We present the case of a 17‐year‐old male with scrotal swelling following trauma. Ultrasound revealed a large hypoechoic mass in the left hemi‐scrotum. A left radical orchiectomy was performed. Histopathology showed a spindle cell tumor with a mutation in NRAS mutation (Q61L) and positive for skeletal muscle markers including Myogenin, MyoD1 (myogenic differentiation 1), Desmin, Vimentin, and Actin. Staging imaging showed an enlarged left para‐aortic lymph node and a small pleural nodule. The patient was scheduled for three cycles of chemotherapy as initial management and regular follow‐up with imaging. Conclusion Spindle cell RMS necessitates prompt diagnosis and intervention to reduce morbidity and mortality. This case highlights the importance of accurate assessment, diagnosis and management to minimize recurrence risk.
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Alabassi et al. (2025) studied this question.
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