Rhabdomyosarcoma, Embryonal, 2

A number sign (#) is used with this entry because embryonal rhabdomyosarcoma-2 is caused by heterozygous mutation in the DICER1 gene (606241) on chromosome 14q32.

Clinical Features

Foulkes et al. (2011) identified 3 families of European origin containing 4 individuals with uterine cervix embryonal rhabdomyosarcoma (CERMS) who carried DICER1 mutations. Mutation carriers in these families also manifested multinodular goiter (see 138800), Sertoli-Leydig cell tumors, and Wilms tumor.

Molecular Genetics

In 4 individuals with CERMS from 3 families, Foulkes et al. (2011) identified heterozygous germline mutations in the DICER1 gene (e.g., 606241.0011-606241.0012).