Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap
J Wyatt-Ashmead1, B Kleinschmidt-DeMasters, G W Mierau
1Pathology Department, The Children's Hospital, 1056 East 19th Avenue B120, Denver, CO 80218, USA.
Abstract:
Five of six poorly differentiated choroid plexus carcinomas identified at our institution contained cells displaying a rhabdoid phenotype. Immunoperoxidase stains showed focal positivity for cytokeratin, epithelial membrane antigen, glial fibrillary acidic protein, S100, and vimentin. The MIB-1 proliferative index ranged from 7.0% to 27.1%. All six tumors were p53 positive. Only the one child with Li-Fraumeni syndrome had a p53 germline mutation. Electron microscopy verified choroid plexus differentiation and the co-existence of rhabdoid cells. Of the five studied, four had deletions of chromosome 22 [three with monosomy 22 and one with del(22)(q12)]. Thus, there was a phenotypic and genotypic overlap between choroid plexus carcinomas and rhabdoid tumors.
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