title: No evidence of hSNF5/INI1 point mutations in choroid plexus papilloma.
abstract: Choroid plexus carcinomas (CPC) have been shown to carry mutations in the hSNF5/INI1 gene on chromosomal arm 22q11.2. A recent study on choroid plexus papillomas (CPP) and CPC revealed frequent losses of chromosomal portions on the long arm of chromosome 22 (-22q). The region harbouring hSNF5/INI1 was affected in 47% of the CPP and 73% of the CPC, respectively. -22q occurred more frequently in adult than in infantile CPP suggesting different pathogenetic pathways for these tumours. These findings may indicate a potential tumour suppressor gene function of hSNF5/INI1 in a subset of choroid plexus tumours. In order to examine its potential role in the pathogenesis of choroid plexus tumours, we analysed exons 1-9 of hSNF5/INI1 by SSCP analysis in a series of 21 formalin-fixed and paraffin-embedded CPP. No alterations in migratory patterns were detected. These data indicate that somatic point mutations of hSNF5/INI1 do not play a role in the pathogenesis of CPP and that CPP and CPC may arise by two different molecular pathways.
authors.affiliation: Institute of Neuropathology, Charité, Humboldt University, Berlin, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Mueller
authors.forename: J-H David
authors.initials: JH
authors.lastname: Eum
authors.forename: U
authors.initials: U
authors.lastname: Lass
authors.forename: W
authors.initials: W
authors.lastname: Paulus
authors.forename: C
authors.initials: C
authors.lastname: Sarkar
authors.forename: W
authors.initials: W
authors.lastname: Bruck
authors.forename: A
authors.initials: A
authors.lastname: von Deimling
mesh_terms: D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D002868:Chromosomal Proteins, Non-Histone; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D020288:Papilloma, Choroid Plexus / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D000071796:SMARCB1 Protein; D016707:Tissue Fixation; D014157:Transcription Factors
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors