Clinicopathological characteristics associated with BRAFK601E and BRAFL597 mutations in melanoma

Mark Voskoboynik, Victoria Mar, Sonia L Mailer, Andrew Colebatch, Anne Fennessy, Aleksandra Logan, Chelsee Ann Hewitt, Jonathon Cebon, John Kelly, Grant McArthur

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9 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)222-228
Number of pages7
JournalPigment Cell and Melanoma Research
Volume29
Issue number2
DOIs
Publication statusPublished - 1 Mar 2016

Keywords

  • BRAF K601E
  • BRAF L597
  • BRAF mutation
  • Primary melanoma

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