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Updated: Jun 28, 2026
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Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
KIT gene mutations and copy number in melanoma subtypes
Carol Beadling1, Erick Jacobson-Dunlop, F Stephen Hodi
1Oregon Cancer Institute, Oregon Health & Science University, Portland, Oregon 97239, USA.
Summary
KIT mutations are most frequent in acral and mucosal melanomas, offering potential new imatinib treatment avenues. Screening for these KIT mutations could benefit melanoma patients.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Melanoma is a significant skin cancer with diverse subtypes.
- KIT mutations have been implicated in targeted cancer therapies.
- Previous identification of a KIT exon 11 mutation in anorectal melanoma suggested potential therapeutic relevance.
Purpose of the Study:
- To determine the frequency of KIT mutations across various melanoma subtypes.
- To investigate the correlation between KIT mutations, copy number, and CD117 expression.
- To assess the potential for imatinib sensitivity in identified KIT mutations.
Main Methods:
- Screening of 189 melanomas for mutations in KIT exons 11, 13, and 17.
- Quantitative PCR for KIT copy number analysis.
- BRAF and NRAS mutation analysis in a subset of cases.
- Immunohistochemistry for KIT (CD117) expression.
Main Results:
- KIT mutations were most common in acral (23%) and mucosal (15.6%) melanomas.
- Almost all identified KIT mutations were predicted to be imatinib sensitive.
- Increased KIT copy number was observed in acral and mucosal melanomas.
- CD117 expression did not correlate with KIT mutation status or copy number.
Conclusions:
- KIT mutations are prevalent in acral and mucosal melanomas.
- KIT mutation status does not consistently correlate with KIT copy number or CD117 expression.
- Identifying KIT mutations may reveal new therapeutic strategies for melanoma patients.
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