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

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.