Schwannomas: Role of Molecular Genetics and Epigenetic Mechanisms

摘要: Schwannomas are benign tumors that arise sporadically or associated to the NF2 syndrome. The characteristic alteration in schwannomas is loss of heterozygosity 22q (up 50%), where gene located. Inactivating mutations this have been found up 66% sporadic and 33% NF2-associated tumors. nonsense frameshift mutations, both causing truncated proteins, with more severe phenotypes. Merlin, product gene, belongs ERM family proteins connect actin cytoskeleton plasma membrane. Merlin functions as a tumor suppressor involved cell-cell cell-matrix interactions through an array molecular pathways. over-expression can inhibit cell proliferation transformation induced by oncogenes, its down-regulation cause lack contact inhibition, leading neoplastic transformation. Another oncogenic mechanism studied epigenetic hypermethylation genic promoters. study silencing has shown high frequencies promoter some well known cancer-related genes, specifically on gene. There many unknown aspects biology schwannomas. However, current knowledge technical advances allows us be optimistic about future perspectives.