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Molecular Characteristics of GISTs Yuji Sakuma 1 , Shinji Sakurai 1 1Department of Pathology, Jichi Medical School Keyword: GIST , c-kit , PDGFRα , imatinib mesylate pp.405-412
Published Date 2004/4/24
DOI https://doi.org/10.11477/mf.1403100482
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 Most of gastrointestinal stromal tumors (GISTs) have gain-of-function mutations of the c-kit gene, suggesting that constitutive activation of KIT is a critical event in the development of GISTs. However, it is controversial whether KIT activation solely induces development of GISTs. Additional cytogenetic alterations involving genes other than c-kit, may participate in development and progression of GISTs. Moreover, a minority of GISTs lack c-kit gene mutations and such type of GISTs frequently have activating mutations of platelet-derived growth factor receptor (PDGFR) α gene. Multiple GISTs, which less frequently have mutations of c-kit and PDGFRα gene, develop in patients with neurofibromatosis1. Further studies clarifying molecular mechanisms of GISTs development and progression will be needed for rational selection of patients for molecular targeting therapy.

 1) Department of Pathology, Jichi Medical School, Tochigi, Japan


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電子版ISSN 1882-1219 印刷版ISSN 0536-2180 医学書院

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