MTS1/p16/CDKN2 lesions in primary glioblastoma multiforme.

摘要: Abstract The multiple tumor suppressor 1 (MTS1) gene encoding the p16 inhibitor of cyclin-dependent kinase 4 is deleted or mutated in a wide variety human cell lines, but importance this as vivo appears to be highly dependent on type. Because MTS1/p16/CDKN2 and homologous MTS2/p15 map region chromosome 9p21, which frequently malignant gliomas, we searched for lesions these genes primary biopsies glioblastoma multiforme (GBM). Our analysis confirms sizable frequency homozygous deletion (9/27 cases) also reveals low detectable intragenic DNA (one point mutation exon 2 leading premature termination) among GBMs that retain one both copies gene. No mutations were found (12 cases examined), GBM showed breakpoint 30 kb between resulting with retention MTS2/p15. In contrast high-grade tumors, none 12 low-grade gliomas deletions. These data support role evolution GBMs. Given two tumors hemizygous deletions loss heterozygosity 9p21 did not contain mutations, there may more additional relevant genes.