In 2015, Shain and colleagues explored intra- and interhumoral homogeneity of both BRAF and KIT mutations, and concluded that mutation status can change during disease progression; ie, recurrences or metastases may have mutations not present in the primary tumor. Although this appears to be uncommon, testing for the presence of gene mutations is strongly recommended.
KIT mutations may occur in multiple "hot spots" across the gene and differ in their sensitivity to KIT inhibitor therapy. KIT amplifications appear to have minimal or no sensitivity to KIT inhibitors.
BRAF inhibitors should not be used in patients without activating mutations in BRAF. BRAF V600 mutations have been associated with sensitivity to MEK inhibitors.
Learn more about the workup for malignant melanoma.
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Cite this: Adil Daud. Fast Five Quiz: Genetic/Biomarker Testing in Melanoma - Medscape - Feb 22, 2022.
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