3 Matching Annotations
  1. Apr 2022
    1. 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

    2. 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

  2. May 2014