DICER1 syndrome and embryonal rhabdomyosarcoma of the cervix: a case report and literature review.

ABSTRACT:

Background

Embryonal rhabdomyosarcomas (ERMS) of the uterine cervix and corpus are rare pediatric tumors usually associated with a late age of onset and frequent somatic DICER1 mutation. It may also develop in the context of a familial predisposition such as DICER1 syndrome requiring specific medical care for children and young adults at risk for a broad range of tumors.

Case presentation

This is a case of a prepubescent 9-year-old girl who was presented to our department for metrorrhagias due to a vaginal cervical mass, initially classified as a müllerian endocervical polyp on negative myogenin immunostaining. The patient subsequently manifested growth retardation (-2DS) and learning disabilities leading to genetic explorations and the identification of a germline pathogeni

SUBMITTER: Stambouli A 

PROVIDER: S-EPMC10196141 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature