Mutational analysis of INI1 in sporadic human brain tumors

Acta Neuropathol. 2001 May;101(5):479-82. doi: 10.1007/s004010000316.

Abstract

The INI1/SMARCB1/hSNF5 gene on chromosome 22 is frequently mutated in rhabdoid tumors. An association of INI1 mutations with allelic losses on chromosome 22 supports a classical tumor suppressor mechanism. Several brain tumor entities including astrocytomas, glioblastomas and ependymomas are characterized by allelic losses on chromosome 22. In the present study we examined a series of 200 brain tumors by Single-strand conformation polymorphism analysis and direct sequencing for point mutations in INI1. In addition, all tumors were analyzed for homozygous deletions spanning both exons 3 and 8 of INI1. No mutations or homozygous deletions were detected in astrocytomas, glioblastomas, oligodendroglial tumors, neurinomas or medulloblastomas. However, a point mutation could be identified in the single case of plexus carcinoma. Our data suggest that INI1 mutations are involved in the pathogenesis of plexus carcinoma; however, INI1 alterations are not a frequent event in the majority of brain tumor entities.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence / physiology
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / physiopathology
  • Chromosomal Proteins, Non-Histone
  • Chromosomes, Human, Pair 22 / genetics*
  • DNA / analysis
  • DNA / genetics
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Genes, Tumor Suppressor / physiology
  • Humans
  • Loss of Heterozygosity / genetics
  • Point Mutation / genetics*
  • Polymorphism, Genetic / genetics
  • Polymorphism, Single-Stranded Conformational
  • Protein Structure, Tertiary / genetics
  • SMARCB1 Protein
  • Transcription Factors

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors
  • DNA