KIT exon(s) 17 any
KIT mutations occur in approximately 15-20% of patients with mucosal melanomas. The majority ofKIT mutations occur within exon 11 and they are less frequent in other exons. The N822K mutation in exon 17 occurs within the kinase domain of KIT. Mutant KIT proteins have increased kinase activity and transforming activity in vitro. Although KIT activating mutations in exons 11 and 13 are typically sensitive to treatment with Imatinib, there was no response to treatment noted in patients harboring mutations in exon 17 (Ref. 4).
Curtin et al., Somatic activation of KIT in distinct subtypes of melanoma J Clin Oncol. 2006 Sep 10;24(26):4340-6. Epub 2006 Aug 14.
Beadling et al., KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res. 2008 Nov 1;14(21):6821-8. doi: 10.1158/1078-0432.CCR-08-0575.
Torres-Cabala et al. Correlation between KIT expression and KIT mutation in melanoma: a study of 173 cases with emphasis on the acral-lentiginous/mucosal type. Mod Pathol. 2009 Nov;22(11):1446-56. doi: 10.1038/modpathol.2009.116.
Guo 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 Jul 20;29(21):2904-9. doi: 10.1200/JCO.2010.33.9275.
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