DICER1 Mutation Detected in an Infant Guides Accurate Diagnosis of Auto-Amputated Embryonal Rhabdomyosarcoma.

Abstract excerpt

BACKGROUND: The DICER1 mutation is a pathogenic, germline mutation that predisposes patients to uncommon malignancies at a young age. CASE: A 6-month-old female infant presented with vaginal bleeding and a protruding vaginal mass of unclear pathogenesis. Chemotherapy was initially targeted toward a germ cell tumor; after pathologic testing and auto-amputation of the tumor, the patient was diagnosed with a rare...

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