title: [Atypical teratoid and rhabdoid tumor. Report of a congenital case].
abstract: The atypical teratoid rhabdoid tumor is a rare brain tumor of childhood. We report a congenital case, revealed by peripheral facial palsy. This polymorphous tumor consisted of rhabdoid cells associated with areas of primitive neuroectodermal tumor. The immunoreactivity for the three proteins vimentin, epithelial membrane antigen and smooth-muscle actin was suggestive of rhabdoid tumor. Genetic study showed a homozygous mutation in the tumoral DNA and a constitutional heterozygous mutation, as it was demonstrated in atypical teratoid rhabdoid tumors and in renal and extra-renal rhabdoid tumors.
authors.affiliation: Service d'Anatomie Pathologique et de Neuropathologie, CHU Timone, 264, rue Saint-Pierre, 13385 Marseille Cedex 05.
authors.forename: C
authors.initials: C
authors.lastname: Fernandez
authors.forename: N
authors.initials: N
authors.lastname: Sévenet
authors.forename: C
authors.initials: C
authors.lastname: Bouvier-Labit
authors.forename: G
authors.initials: G
authors.lastname: Lena
authors.forename: D
authors.initials: D
authors.lastname: Figarella-Branger
mesh_terms: D000199:Actins / Q000032:analysis; D001932:Brain Neoplasms / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D002648:Child; D004273:DNA, Neoplasm / Q000235:genetics; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D018396:Mucin-1 / Q000032:analysis; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000151:congenital / Q000235:genetics / Q000473:pathology; D018242:Neuroectodermal Tumors, Primitive / Q000473:pathology; D018335:Rhabdoid Tumor / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D013724:Teratoma / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D014746:Vimentin / Q000032:analysis
chemical_list: D000199:Actins; D004273:DNA, Neoplasm; D018396:Mucin-1; D014746:Vimentin