Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.

ABSTRACT:

Objective

Germline pathogenic variation in DICER1 underlies a tumor-predisposition disorder with increased risk for cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors, particularly Sertoli-Leydig cell tumors. The gynecologic and reproductive health of these females has not yet been described.

Methods

All female subjects recruited from November 2011 to July 2018 participating in an epidemiologic study of families with pathogenic DICER1 germline variation were included in this cross-sectional analysis. Participant evaluation included obstetric-gynecologic history, physical examination, hormone testing, pelvic ultrasound and record review.

Results

Of 64 females aged 2-72 years, fifteen underwent treatment for pleuropulmonary blastoma as children and

SUBMITTER: Merideth MA 

PROVIDER: S-EPMC7462333 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature