PTEN/MMAC1 mutations and EGFR amplification in glioblastomas

Cancer Res. 1997 Dec 1;57(23):5254-7.

Abstract

Loss of heterozygosity (LOH) from chromosome 10 is a hallmark of glioblastoma, the most malignant (grade IV) form of glioma. A candidate tumor suppressor gene, PTEN/MMAC1, that may be targeted for deletion in association with chromosome 10 LOH has recently been identified. Here we have investigated 63 glioblastomas for PTEN/MMAC1 alterations and identified DNA sequence changes that would affect the encoded protein in 17 (27%) tumors. Microsatellite analyses of normal-tumor DNA pairs were performed on 14 of these cases and revealed LOH at locations flanking and/or near PTEN/MMAC1 in all but 1 instance, suggesting that deletion of the remaining wild-type allele had occurred in the large majority of tumors with PTEN/MMAC1 mutations. Competitive PCR assays were developed to address the possible occurrence of PTEN/MMAC1 homozygous deletions in glioblastomas, and this analysis identified three samples having loss of both PTEN/MMAC1 alleles. EGFR amplification was determined to occur at similar frequencies among cases with or without PTEN/MMAC1 homozygous deletions or mutations, suggesting that a growth-promoting effect resulting from amplification-associated increases in epidermal growth factor receptor signaling is not necessarily dependent on the inactivation of PTEN/MMAC1.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10*
  • DNA / blood
  • DNA, Neoplasm / chemistry
  • ErbB Receptors / biosynthesis
  • ErbB Receptors / chemistry
  • ErbB Receptors / genetics*
  • Exons
  • Frameshift Mutation
  • Glioblastoma / enzymology
  • Glioblastoma / genetics*
  • Glioblastoma / surgery
  • Humans
  • Microsatellite Repeats
  • Molecular Sequence Data
  • Mutation*
  • PTEN Phosphohydrolase
  • Phosphoric Monoester Hydrolases*
  • Point Mutation
  • Polymerase Chain Reaction
  • Protein Tyrosine Phosphatases / biosynthesis*
  • Protein Tyrosine Phosphatases / chemistry
  • Protein Tyrosine Phosphatases / genetics*
  • Sequence Deletion
  • Tumor Suppressor Proteins*

Substances

  • DNA, Neoplasm
  • Tumor Suppressor Proteins
  • DNA
  • ErbB Receptors
  • Phosphoric Monoester Hydrolases
  • Protein Tyrosine Phosphatases
  • PTEN Phosphohydrolase
  • PTEN protein, human