title: Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap.
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.
authors.affiliation: Pathology Department, The Children's Hospital, 1056 East 19th Avenue B120, Denver, CO 80218, USA.
authors.forename: J
authors.initials: J
authors.lastname: Wyatt-Ashmead
authors.forename: B
authors.initials: B
authors.lastname: Kleinschmidt-DeMasters
authors.forename: G W
authors.initials: GW
authors.lastname: Mierau
authors.forename: D
authors.initials: D
authors.lastname: Malkin
authors.forename: E
authors.initials: E
authors.lastname: Orsini
authors.forename: L
authors.initials: L
authors.lastname: McGavran
authors.forename: N K
authors.initials: NK
authors.lastname: Foreman
mesh_terms: D000293:Adolescent; D014408:Biomarkers, Tumor / Q000378:metabolism; D002277:Carcinoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D016545:Choroid Plexus Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D003937:Diagnosis, Differential; D005260:Female; D016158:Genes, p53; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D007621:Karyotyping; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000473:pathology; D008297:Male; D010641:Phenotype; D018335:Rhabdoid Tumor / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: D014408:Biomarkers, Tumor