Clinicopathological characteristics associated with BRAFK601E and BRAFL597 mutations in melanoma |
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| Authors: | Mark Voskoboynik Victoria Mar Sonia Mailer Andrew Colebatch Anne Fennessy Aleksandra Logan Chelsee Hewitt Jonathon Cebon John Kelly Grant McArthur |
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| Affiliation: | 1. Peter MacCallum Cancer Centre, East Melbourne, Vic., Australia;2. Victorian Melanoma Service, Alfred Hospital, Prahran, Melbourne, Vic., Australia;3. Skin and Cancer Foundation, Melbourne, Vic., Australia;4. Department of Epidemiology and Preventive Medicine, Monash University, Melbourne, Vic., Australia;5. School of Cancer Medicine, La Trobe University, Olivia Newton‐John Cancer Research Institute, Heidelberg, Vic., Australia;6. Melbourne University, Parkville, Vic., Australia |
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| 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. |
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| Keywords: | BRAF L597 BRAF K601E BRAF mutation primary melanoma |
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