A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases
A novel BRAF mutation in association with primary amelanotic melanoma with oral metastases
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DOI：
10.1111/jdv.12358
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发表时间：
2015-02-01
影响因子：
9.2
通讯作者：
Nicoli, D.
中科院分区：
文献类型：
--
作者：
Zalaudek, I.;Ciarrocchi, A.;Nicoli, D.
背景在无色素性黑色素瘤的背景下，关于决定这种特殊表型黑色素瘤的发病及其转移扩散部位的遗传或分子背景知之甚少。目的报道1例口腔转移的无色素性黑色素瘤的遗传学分析。方法采用Sanger测序和焦解测序两种方法对原发灶的BRAF突变状态进行分析。这些突变可能导致BRAF蛋白(BRAF T599I/V600K)第599和600密码子上罕见的双氨基酸替换。结论这种罕见的突变与罕见的原发肿瘤临床表型和罕见的转移扩散部位有关。在缺乏可比较的数据的情况下，这种不寻常的突变与临床结果之间的潜在联系仍有待进一步研究。
BackgroundIn the context of amelanotic melanoma, little is known on the genetic or molecular background that determines the onset of this peculiar phenotype of melanoma and its sites of metastatic spread. However, it appears that amelanotic melanomas frequently lack BRAF mutations.ObjectiveTo report the genetical analysis of one case amelanotic melanoma developing oral metastasis.MethodsThe BRAF mutational status of the primary lesion was assessed by both Sanger sequencing and pyrosequencing.ResultsBoth methodologies showed changes in three nucleotides: C1796T; G1798A and T1799A. These mutations should result in a rare double aminoacid substitution in codons 599 and 600 of the BRAF protein (BRAF T599I/V600K).ConclusionThis unusual mutation was associated with an uncommon clinical phenotype of the primary tumour and with an unusual site of metastatic spread. In the lack of comparable data, a potential association between the unusual mutation and clinical findings remains a matter of further studies.