Pathogenetic Implications of BRAF Mutation Distribution in Stage IV Melanoma Patients.

Background: BRAF mutation frequencies in melanoma subtypes have clinical implications and offer pathogenetic clues.

Objectives: To characterize BRAF mutation status in melanoma of unknown primary (MUP) patients, in histological melanoma subtypes and by localization of primary tumors.

Methods: In 179 patients with stage IV metastatic melanoma, BRAF mutation status, histological subtype and localization of primary (except for 29 MUP patients) were analyzed.

Mutation landscape in melanoma patients clinical implications of heterogeneity of BRAF mutations.

Background: The detection of V600E BRAF mutations has fundamental clinical consequences as the treatment option with BRAF inhibitors such as vemurafenib or dabrafenib yields response rates of ~48%. Heterogeneity with respect to BRAF mutation in different metastases has been described in single cases. As this has important implications for the determination of BRAF status and treatment of patients, it is essential to acquire more data.

Rare BRAF mutations in melanoma patients: implications for molecular testing in clinical practice.

Background: The detection of V600E BRAF mutation in melanoma is fundamental since here BRAF inhibitors represent an effective treatment. Non-V600E BRAF mutations that may also respond are not detected by certain screening methods. Thus, knowledge about detection of these mutations is needed.