Hong Jin-Woo, Lee Suee, Kim Dae-Cheol, Kim Ki-Ho, Song Ki-Hoon
Department of Dermatology, Dong-A University College of Medicine, Busan, Korea.
Department of Internal Medicine, Dong-A University College of Medicine, Busan, Korea.
Ann Dermatol. 2014 Apr;26(2):195-202. doi: 10.5021/ad.2014.26.2.195. Epub 2014 Apr 30.
In the majority of melanomas, the RAS/RAF/MEK/ERK signaling pathway is constitutively activated, due to oncogenic mutations in the BRAF and NRAS genes. The BRAF mutation has been mainly described in Caucasian melanomas. However, there is a lack of study evaluating the status, and the clinical significance, of BRAF mutation in the Asian population.
This study was aimed to determine the frequency of BRAF mutation, and to evaluate the correlation of BRAF status with clinicopathologic features and outcomes, in Korean primary acral lentiginous melanoma (ALM) patients.
ALM samples (n=36) were analyzed for the BRAF V600E mutation, by dual-priming oligonucleotide (DPO) based real-time polymerase chain reaction. The clinicopathologic features and prognosis of the patients were analyzed with BRAF mutation status.
The incidence of BRAF V600E mutation was 19.4% (7/36). The BRAF V600E mutations were not associated with clinicopathologic features, except for the age factor. All of the BRAF-mutant patients survived without recurrence or metastasis, and have a better clinical outcome than BRAF wild-type patients.
In Korean primary ALM, a low frequency of BRAF mutation was shown; and BRAF mutation presented with a favorable prognosis. These results indicate that other distinctive genetic mechanisms may have more important roles in the development and progression of disease. Further multicenter study with large sample size is firmly needed, to confirm the results of our preliminary study.
在大多数黑色素瘤中,由于BRAF和NRAS基因的致癌突变,RAS/RAF/MEK/ERK信号通路被持续激活。BRAF突变主要在白种人黑色素瘤中被描述。然而,缺乏对亚洲人群中BRAF突变状态及其临床意义的研究。
本研究旨在确定韩国原发性肢端雀斑样痣黑色素瘤(ALM)患者中BRAF突变的频率,并评估BRAF状态与临床病理特征及预后的相关性。
采用基于双引物寡核苷酸(DPO)的实时聚合酶链反应分析36例ALM样本中的BRAF V600E突变。分析患者的临床病理特征和预后与BRAF突变状态的关系。
BRAF V600E突变的发生率为19.4%(7/36)。除年龄因素外,BRAF V600E突变与临床病理特征无关。所有BRAF突变患者均存活且无复发或转移,临床结局优于BRAF野生型患者。
在韩国原发性ALM中,BRAF突变频率较低;且BRAF突变提示预后良好。这些结果表明,其他独特的遗传机制可能在疾病的发生和发展中起更重要的作用。迫切需要进一步开展大样本量的多中心研究来证实我们初步研究的结果。