title: Human medulloblastomas lack point mutations and homozygous deletions of the hSNF5/INI1 tumour suppressor gene.
abstract: Medulloblastomas (MBs) are malignant primitive neuroectodermal tumours (PNETs) of the cerebellum occurring predominantly in childhood. The association of monosomy of chromosome 22 with MB is controversial. Atypical teratoid/rhabdoid tumours (AT/RTs) of the brain share clinical and histological features with MBs and supratentorial PNETs (sPNETs). In particular, AT/RTs can be misdiagnosed as MBs and sPNETs because AT/RTs frequently contain areas of primitive neuroepithelial cells similar to PNETs. Recently, mutations of the tumour suppressor gene hSNF5/INI1, located on 22q11.23, have been described in AT/RTs, MBs and sPNETs, with conflicting data on the prevalence of hSNF5/INI1 mutations in the latter entities. Therefore, we screened MBs for point mutations and homozygous deletions of the hSNF5/INI1 tumour suppressor gene. In 90 MBs, no mutations of the hSNF5/INI1 gene were identified. Thus, our study virtually rules out hSNF5/INI1 as a tumour suppressor gene involved in the pathogenesis of medulloblastoma.
authors.affiliation: Department of Neurology, University of Bonn Medical Center, Sigmund-Freud-Strasse 25, D-53105 Bonn, Germany.
authors.forename: J A
authors.initials: JA
authors.lastname: Kraus
authors.forename: C
authors.initials: C
authors.lastname: Oster
authors.forename: N
authors.initials: N
authors.lastname: Sörensen
authors.forename: F
authors.initials: F
authors.lastname: Berthold
authors.forename: U
authors.initials: U
authors.lastname: Schlegel
authors.forename: J C
authors.initials: JC
authors.lastname: Tonn
authors.forename: O D
authors.initials: OD
authors.lastname: Wiestler
authors.forename: T
authors.initials: T
authors.lastname: Pietsch
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence / Q000235:genetics; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D016147:Genes, Tumor Suppressor / Q000502:physiology*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008527:Medulloblastoma / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D000071796:SMARCB1 Protein; D014157:Transcription Factors; D014407:Tumor Cells, Cultured
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors