Fast Five Quiz: Genetic/Biomarker Testing in Melanoma

Adil Daud, MD


February 22, 2022

Although the V600E mutation is the most common BRAF mutation, repeat testing using a different methodology may be indicated to identify non-V600 BRAF mutations or other mutations in different genes. These mutations may respond equally well to BRAF inhibitors.

BRAF and KIT mutations are considered early genetic driver events, so repeat molecular testing upon recurrence or metastasis is not always beneficial, but it can be if new or more comprehensive testing methods are employed, or a larger sample is available, as some tests have lower sensitivity/specificity or detect only particular mutations.

Repeat testing following progression on targeted therapy does not appear to have clinical utility. According to Tímár and colleagues, mechanisms of resistance do not have prognostic relevance or inform therapy decisions.

Learn more about the workup for malignant melanoma.

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