Sporadic Medulloblastomas Contain Oncogenic β-Catenin Mutations

摘要: The beta-catenin, glycogen synthase kinase 3beta (GSK-3beta), and adenomatous polyposis coli (APC) gene products interact to form a network that influences the rate of cell proliferation. Medulloblastoma occurs as part Turcot's syndrome, patients with who develop medulloblastomas have been shown harbor germ-line APC mutations. Although mutations investigated not identified in sporadic medulloblastomas, status beta-catenin GSK-3beta genes has evaluated this tumor. Here we show 3 67 mutations, each which converts phosphorylation site from serine cysteine. mutation seen tumors was present matched constitutional DNA two cases where available. A loss heterozygosity analysis 32 paired normal samples performed four microsatellite markers flanking locus; at least one marker 7 tumors. Sequencing remaining allele these failed identify any Taken together, data suggest activating may be involved development subset medulloblastomas. does appear target for inactivation