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 DICER1-associated embryonal rhabdomyosarcoma. Subsequently, her treatment course was restructured and family genetic surveillance instituted.
Summary and conclusion: Consideration for DICER1 mutation in tumors with complex pathology and unique presentation is critical to aid in diagnosis and management, and direct future comprehensive surveillance.
Keywords: DICER 1 mutation; Embryonal Rhabdomyosarcoma; Vaginal tumor.
Copyright © 2021 Elsevier Ltd. All rights reserved.