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

TL;DR

A 15-year-old with a rare genetic disorder developed aggressive cancer and died despite treatment, highlighting the need for personalized monitoring.

Contribution

This case highlights the role of multiple gene mutations in DICER1 syndrome and advocates for tailored monitoring strategies.

Findings

The patient had mutations in DICER1, NF1, and TP53 genes, which may have worsened the disease.

Despite treatment, the patient developed metastases and died from respiratory failure.

Personalized monitoring is crucial for early detection in DICER1 syndrome.

Abstract

DICER1 syndrome is a rare autosomal dominant genetic disorder and presents a variety of manifestations.

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.

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.

Figures