期刊
PIGMENT CELL & MELANOMA RESEARCH
卷 29, 期 2, 页码 222-228出版社
WILEY-BLACKWELL
DOI: 10.1111/pcmr.12450
关键词
BRAF L597; BRAF K601E; BRAF mutation; primary melanoma
资金
- Melanoma Research Alliance (MRA)
- Melbourne Melanoma Project (MMP)
- La Trobe University
- Victorian State Government Operational Infrastructure Support Program
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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