Table 1.

Gene mutation prevalence and molecular testing recommendations for melanoma subtypes

MutationsTesting recommendations
BRAFNRASKITGNAQ/11BAP1First stepSecond step
Cutaneous (non-CSD)45%15–20%∼1%?BRAF ± NRASKIT
Cutaneous (CSD)5–30%10–15%2–17%?BRAF ± NRASKIT
Acral10–15%10–15%15–20%?BRAF, KIT ± NRAS
Mucosal5%5–10%15–20%?BRAF, KIT ± NRAS
Uveal80%50%Gene expression profiling or monosomy 3 determinationa
Melanoma from an unknown primary50%20%BRAF, NRASKIT; GNAQ, GNA11, monosomy 3

NOTE: A dash (—) means “insignificant number reported”; a question mark (?) means “not yet reported.”

  • aGene expression profiling and monosomy 3 analysis of primary uveal melanomas have been used as prognostic tests for metastatic risk (41); these tests currently do not have a defined role in patients with metastatic disease.