Human Molecular Genetics, Vol 8, 2359-2368, Copyright © 1999 by Oxford University Press
N S#venet, A Lellouch-Tubiana, D Schofield, K Hoang-Xuan, M Gessler, D Birnbaum, C Jeanpierre, A Jouvet and O Delattre
The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-
dependent remodeling complex, is a new tumor suppressor gene localized on
chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid
tumors. We have searched for hSNF5/INI1 mutations in 229 tumors of various
origins using a screening method based on denaturing high-performance
liquid chromatography. A total of 31 homozygous deletions and 36 point
alterations were identified. Point mutations were scattered along the
coding sequence and included 15 nonsense, 15 frameshift, three splice site,
two missense and one editing mutations. Mutations were retrieved in most
rhabdoid tumors, whatever their sites of occurrence, indicating the common
pathogenetic origin of these tumors. Recurrent hSNF5/INI1 alterations were
also observed in choroid plexus carcinomas and in a subset of central
primitive neuroectodermal tumors (cPNETs) and medulloblastomas. In
contrast, hSNF5/INI1 point mutations were not detected in breast cancers,
Wilms' tumors, gliomas, ependymomas, sarcomas and other tumor types, even
though most analyzed cases harbored loss of heterozygosity at 22q11.2 loci.
These results suggest that rhabdoid tumors, choroid plexus carcinomas and a
subset of medulloblastomas and cPNETs share common pathways of oncogenesis
related to hSNF5/INI1 alteration and that hSNF5/INI1 mutations define a
genetically homogeneous family of highly aggressive cancers mainly
occurring in young children and frequently, but not always, exhibiting a
rhabdoid phenotype.
ARTICLES
Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype- phenotype correlations
Laboratoire de Pathologie Mol#culaire des Cancers, INSERM U509, Institut Curie, 26 rue d'Ulm, 75248 Paris cedex 05, France,
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