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No evidence of hSNF5/INI1 point mutations in choroid plexus papilloma
Author(s) -
Mueller W.,
Eum J.H. David,
Laß U.,
Paulus W.,
Sarkar C.,
Bruck W.,
Von Deimling A.
Publication year - 2004
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1046/j.0305-1846.2004.00538.x
Subject(s) - choroid plexus , point mutation , pathogenesis , papilloma , pathology , choroid plexus papilloma , exon , biology , gene , chromosome , mutation , cancer research , medicine , anatomy , genetics , neuroscience , central nervous system
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.