DICER1 Syndrome With Embryonal Rhabdomyosarcoma of the Uterine Cervix and Retroperitoneal Metastasis: A Case Report and Literature Review

Background: DICER1 syndrome is a rare autosomal dominant genetic disorder and presents a variety of manifestations. Case: A 15-year-old adolescent presented cervical embryonal rhabdomyosarcoma, retroperitoneal tumor and multinodular goiter. Genetic analysis demonstrated a mutation in Exon 25 of DICER1 gene, a mutation in Intron 19 of NF1 gene, and a mutation in Exon 7 of TP53 gene. The patient received surgical treatment and six courses of combination chemotherapy. After 7 months of initial diagnosis, the patient occurred a pleural and mediastinal metastasis and eventually died of respiratory failure. Conclusion: Multiple gene mutations, in addition to DICER1 gene mutation, may influence the behavior and prognosis of DICER1 syndrome. We detail the necessity of instituting personalized, multidisciplinary monitoring plans, including regular clinical evaluations and targeted imaging of high-risk organs, to enable early detection and intervention.