Clinicopathological characteristics associated with BRAFK601E and BRAFL597 mutations in melanoma. (17th January 2016)

• Record Type: Journal Article
• Authors: Voskoboynik, Mark; Mar, Victoria; Mailer, Sonia; Colebatch, Andrew; Fennessy, Anne; Logan, Aleksandra; Hewitt, Chelsee; Cebon, Jonathon; Kelly, John; McArthur, Grant
• Is Part Of: Pigment cell & melanoma research. Volume 29:Number 2(2016:Mar.)
• Page Start: 222
• Page End: 228
• Publication Date: 2016-01-17
• Subjects: BRAF L597 -- BRAF K601E -- BRAF mutation -- primary melanoma; Melanoma -- Periodicals; Chromatophores -- Periodicals; Animal pigments -- Periodicals; 616.99477
• DOI: 10.1111/pcmr.12450
• Languages: English
• ISSNs: 1755-1471

Abstract

Summary: BRAF mutations at codons L597 and K601 occur uncommonly in melanoma. Clinical and pathological associations of these mutations were investigated in a cohort of 1119 patients with known BRAF mutation status. A BRAF mutation was identified in 435 patients; Mutations at L597 and the K601E mutation were seen in 3.4 and 3.2% of these, respectively. K601E melanomas tended to occur in male patients, a median age of 58 yr, were generally found on the trunk (64%) and uncommonly associated with chronically sun‐damaged (CSD) skin. BRAF L597 melanomas occurred in older patients (median 66 yr), but were associated with CSD skin (extremities or head and neck location – 73.3%, P = 0.001). Twenty‐three percent of patients with V600E‐ and 43% of patients with K601E‐mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild‐type tumors (P = 0.001 and 0.006, respectively). Overall, these mutations represent a significant minority of BRAF mutations, but have distinct clinicopathological phenotypes and clinical behaviors.