作者: Pierre-Hugues Roche , Corinne Bouvier , Olivier Chinot , Dominique Figarella-Branger
DOI: 10.1159/000156556
关键词: Epigenetics 、 Neurofibromatosis type 2 、 Pathogenesis 、 Tumor suppressor gene 、 Merlin (protein) 、 Epigenesis 、 Pathology 、 Biology 、 Gene mutation 、 Gene 、 Cancer research
摘要: This review chapter is a synthesis of the recent literature about pathogenesis schwannomas with emphasis on vestibular (VSs). The cornerstone cellular transformation and proliferation Schwann cells toward has been attributed to nonexpression normal schwannomin/merlin (S/M) by these cells. understanding this mechanism gained from molecular genetic studies neurofibromatosis type 2 (NF2) patients, in whom mutations tumor suppressor gene (NF2 gene) was clearly identified. S/M NF2 product. Lack protein schwannoma cell due mutation 50% sporadic VSs. In other cases, epigenetic factors or activation protease cascade contribute ineffective S/M. exact interactions extracellular matrix, membranous glycoprotein cytoskeleton are not fully understood. However, it recognized that activate several pathways might regulate cell-cycle process, apoptosis intercellular interaction. Apart involvement pathway, authors potential role abnormalities growing supposed be involved VS. Understanding action regulation may provide basics for identifying therapeutic targets, which paramount importance better management patients.