Journal of pediatric and adolescent gynecology · 2021
DICER1 Mutation Detected in an Infant Guides Accurate Diagnosis of Auto-Amputated Embryonal Rhabdomyosarcoma.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Nashed Lydia M, Mayhew Allison, Gomez-Lobo Veronica, Lawlor Christopher
Аннотация
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.
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.