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

Gynecologic Oncology Mar 09, 2020

Merideth MA, Harney LA, Vyas N, et al. - Given germline pathogenic variation in DICER1 underlies a tumor-predisposition disorder with a heightened risk for cervical embryonal rhabdomyosarcoma and ovarian sex-cord stromal tumors, especially Sertoli-Leydig cell tumors, researchers assessed the gynecologic as well as reproductive health of these women in this cross-sectional study. There were 64 females aged 2–72 years, of those, 15 had treatment for pleuropulmonary blastoma as children and 3 were managed for cervical embryonal rhabdomyosarcoma. Normal pubertal development, regular menstrual cycles, being fertile and having undergone natural menopause at a median age of 52 years, was noted in post-pubertal females with no history of ovarian tumors. Among these women who were DICER1-carriers, the occurrence of DICER1-associated gynecological tumors was reported during childhood or adolescence in some after which women generally had healthy reproductive lives. It is justified to provide individual education and screening for these tumors. Findings revealed a high rate of DICER1-associated multinodular goiter causing pre- and post-pregnancy thyroidectomy, this emphasizes that thyroid monitoring during pregnancy is essential to ensure maternal and fetal wellbeing.
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