Driver KIT mutations in melanoma cluster in four hotspots

Melanoma Res. 2015 Feb;25(1):88-90. doi: 10.1097/CMR.0000000000000116.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line, Tumor
  • Humans
  • Melanocytes / metabolism
  • Melanoma / genetics*
  • Mice
  • Mutation*
  • Neoplasm Metastasis
  • Proto-Oncogene Proteins c-kit / genetics*
  • Skin Neoplasms / genetics*

Substances

  • Proto-Oncogene Proteins c-kit