Abstract:

Rhabdomyosarcoma has a highly malignancy and rare. A 17-year-old patient who was admitted to the hospital for 2 years due to incomplete menstrual bleeding was reported，after perfecting the pelvic magnetic resonance imaging which revealed cervical and vaginal masses. Our hospital performed cervical biopsy, and rapid pathological examination revealed malignant tumors. Later, a walking radical surgery was performed in an external hospital. Postoperative pathology and molecular testing showed that it was DICER1-associated embryonal rhabdomyosarcoma. After surgery, we combined radiotherapy and chemotherapy. Follow up until August 2023 showed no clinical or imaging recurrence, and tumor markers were normal. The clinical symptoms of embryonal rhabdomyosarcoma of the female reproductive tract are atypical, and its occurrence is closely related to the mutation of DICER1 gene. Individualized treatment plans should be developed based on the patient′s age, tumor location, and fertility protection needs, and follow-up monitoring should be strengthened.

Key words: Uterine cervical neoplasms, Rhabdomyosarcoma, Carcinoma, embryonal, Ribonuclease Ⅲ, Genes, Mutation