According to the National Comprehensive Cancer Network guidelines, because targeted therapy is recommended only for patients with advanced disease, BRAF and KIT mutation analyses offer clinical value only for these patients. For initial presentation with stage IV melanoma or recurrence, tissue should be procured to assess for alternations in BRAF and KIT via biopsy of the metastasis (preferred) or archival material if the patient is a candidate for targeted therapy.
Without metastasis, testing of the primary cutaneous melanoma for BRAF mutation is not recommended. BRAF mutation testing is, however, recommended for patients with stage III disease at high risk for recurrence. BRAF or next-generation sequencing testing is not recommend for resected stage I-II cutaneous melanoma unless it will guide clinical trial participation.
Broader genome profiling is recommended if possible. If BRAF single-gene testing is the initial test performed and is negative, a larger, next-generation sequencing panel should be considered to identify any other genetic targets.
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.