PTEN/MMAC1 Mutations and EGFR Amplification in Glioblastomas

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