4 Matching Annotations
- Apr 2022
Individuals who harbor germline pathogenic variants in DICER1 (MIM #601200) have an increased risk for a variety of benign and malignant tumors.
GENENAME: DICER1 PMID: 31952842 HGNCID: NONE DISEASE ENTITY: THYROID DISEASE AND OVARIAN TUMORS ZYGOSITY: HETEROZYGOUS VARIANT: NONE CASE PRESENTING HPOS: cervical embryonal rhabdomyosarcoma CASE PREVIOUS TESTING: GYNECOLOGIC HISTORY MUTATION: DELETION
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.
Health care providers may consider the presence of DICER1 pathogenic variants when a female presents with a personal or family history of ovarian sex cord-stromal tumor
FAMILY INFORMATION: FEMALE PATIENTS WITH A PERSONAL OR FAMILY HISTORY OF OVARIAN TUMORS
Of 64 females aged 2–72 years, fifteen underwent treatment for pleuropulmonary blastoma as children and three were treated for cervical embryonal rhabdomyosarcoma.
CASE: FEMALES AGED 2-72 YEARS