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Interpretation 305
Tier 1
KIT
Variants
KIT V559A
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

KIT mutations are seen in up to 17% of cutaneous melanomas. The V559A mutation in exon 11 occurs within the juxtamembrane domain. In vitro studies have shown that mutant KIT proteins have increased kinase activity. KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib. There are multiple clinical trials available for patients with melanomas harboring KIT alterations.

Citations
  1. Curtin JA, et al. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 2006;24(26):4340-6
  2. Beadling C, et al. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res 2008;14(21):6821-8
  3. Guo J, et al. Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification. J Clin Oncol 2011;29(21):2904-9
Last updated: 2016-08-31 22:08:06 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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