Choroid plexus carcinomas and rhabdoid tumors: phenotypic and genotypic overlap.
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.
Wyatt-Ashmead
J
J
Pathology Department, The Children's Hospital, 1056 East 19th Avenue B120, Denver, CO 80218, USA.
Kleinschmidt-DeMasters
B
B
Mierau
G W
GW
Malkin
D
D
Orsini
E
E
McGavran
L
L
Foreman
N K
NK
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*
D014408:Biomarkers, Tumor