Article
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.
Human pathology - 1 Jun 2015
de Kock Leanne, Druker Harriet, Weber Evan, Hamel Nancy, Traubici Jeffrey, Malkin David, Arseneau Jocelyne, Stewart Colin J R, Bouron-Dal Soglio Dorothée, Priest John R, Foulkes William D
Abstract excerpt
Embryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These "hotspot" mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain....
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