期刊
MELANOMA RESEARCH
卷 25, 期 1, 页码 88-90出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/CMR.0000000000000116
关键词
driver mutation; hypoxia; KIT; melanoma; therapy
资金
- INSERM
- Universite Paris Diderot
- Fondation de France
- Fondation ARC pour la Recherche sur le Cancer
There has been a great deal of interest in understanding the role of KIT in melanoma since the discovery of KIT mutations in a subset of melanoma. Although a significant proportion of these melanomas respond to KIT inhibitors, the presence of a KIT mutation does not guarantee a response to KIT inhibitors. Because recent data seem to indicate that only melanoma with specific KIT mutations respond to KIT inhibitors, we investigated which KIT mutations are driver mutations in melanoma and are therefore therapeutically relevant. We established that 70% of KIT mutations in melanoma are located in four hotspots (L576, K642, W557-V560, and D816-A829) and that these mutations are oncogenic in melanocytes and are bona-fide driver mutations. Testing for KIT mutations should therefore concentrate on these four hotspots, which can be targeted therapeutically.
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