Gynecologic and Reproductive Health in Patients with Pathogenic Germline Variants in DICER1
| Autor: | Ann G. Carr, Laura A. Harney, Nina Vyas, Douglas R. Stewart, Louis P. Dehner, Averyl Bachi, Pamela Stratton, Kris Ann P. Schultz, D. Ashley Hill, Melissa A. Merideth |
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| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male Ribonuclease III medicine.medical_specialty Adolescent medicine.medical_treatment Uterine Cervical Neoplasms Physical examination Pleuropulmonary blastoma Article DEAD-box RNA Helicases 03 medical and health sciences Young Adult 0302 clinical medicine Pregnancy medicine Humans Rhabdomyosarcoma Embryonal Child Amenorrhea Germ-Line Mutation Aged Ovarian Neoplasms medicine.diagnostic_test business.industry Obstetrics Virilization Thyroid Thyroidectomy Obstetrics and Gynecology Middle Aged medicine.disease 030104 developmental biology medicine.anatomical_structure Reproductive Health Oncology 030220 oncology & carcinogenesis Female Embryonal rhabdomyosarcoma medicine.symptom business Genital Diseases Female Pulmonary Blastoma |
| Zdroj: | Gynecol Oncol |
| Popis: | 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 three were treated for cervical embryonal rhabdomyosarcoma. Of nine patients reporting a history of ovarian tumors, all presented with virilization or amenorrhea; eight occurred in adolescence. Post-pubertal females with no history of ovarian tumors experienced normal pubertal development, reported regular menstrual cycles, were fertile and underwent natural menopause at median age of 52 years. Thirty-two of 33 women who tried to conceive successfully delivered liveborn children. Of these 32, 10 experienced pregnancy-related thyroid enlargement resulting in thyroidectomy within one year of pregnancy; nine others had undergone pre-pregnancy thyroidectomy. Conclusion In these DICER1-carrier females, DICER1-related gynecological tumors occurred during childhood or adolescence in some after which women generally experienced healthy reproductive lives. Individual education and screening for these tumors is warranted. The high rate of DICER1-related multinodular goiter resulting in pre- and post-pregnancy thyroidectomy underscores the importance of thyroid monitoring during pregnancy to ensure maternal and fetal wellbeing. |
| Databáze: | OpenAIRE |
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