title: Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis.
abstract: Malignant rhabdoid tumors are highly aggressive childhood tumors. Recently, all of the malignant rhabdoid tumors, whatever their location, have been related to the inactivation of the hSNF5/INI1 gene. A subset of cerebral tumors, associated with malignant rhabdoid tumors or isolated ones arising in siblings, showed similar molecular alterations. We report for the first time in monozygotic twins a congenital disseminated malignant rhabdoid tumor in one twin and a cerebellar tumor mimicking a medulloblastoma in the other. Molecular analysis revealed similar alterations for both tumors: a deletion of exon 7 of the hSNF5/INI1 gene in one allele, and a point mutation in the same exon in the other, suggesting a common genetic pathway. Analysis of constitutional DNA revealed a germline mutation. These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy.
authors.affiliation: Service d'Anatomie Pathologique et de Neuropathologie, CHU Timone, 264 rue Saint-Pierre, 13385 Marseille cédex 05, France.
authors.forename: C
authors.initials: C
authors.lastname: Fernandez
authors.forename: C
authors.initials: C
authors.lastname: Bouvier
authors.forename: N
authors.initials: N
authors.lastname: Sévenet
authors.forename: A
authors.initials: A
authors.lastname: Liprandi
authors.forename: C
authors.initials: C
authors.lastname: Coze
authors.forename: G
authors.initials: G
authors.lastname: Lena
authors.forename: D
authors.initials: D
authors.lastname: Figarella-Branger
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D002528:Cerebellar Neoplasms / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D004273:DNA, Neoplasm / Q000032:analysis; D003937:Diagnosis, Differential; D004200:Diseases in Twins; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006801:Humans; D007124:Immunoenzyme Techniques; D007223:Infant; D008279:Magnetic Resonance Imaging; D008527:Medulloblastoma / Q000473:pathology*; D018335:Rhabdoid Tumor / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D013125:Spinal Neoplasms / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D014430:Twins, Monozygotic
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm