Inumaru J S S, Gordo K I F, Fraga Junior A C, Silva A M T C, Leal C B Q S, Ayres F M, Wastowski I J, Borges N F, Saddi V A
Sistema de Prevenção do Câncer, Goiânia, GO, Brasil.
Departamento de Anatomia Patológica do Hospital Araújo Jorge, Associação de Combate ao Câncer em Goiás, Goiânia, GO, Brasil.
Genet Mol Res. 2014 Jan 22;13(2):2840-8. doi: 10.4238/2014.January.22.8.
BRAF V600E is the most common mutation in cutaneous melanomas, and has been described in 30-72% of such cases. This mutation results in the substitution of valine for glutamic acid at position 600 of the BRAF protein, which consequently becomes constitutively activated. The present study investigated the BRAF V600E mutation frequency and its clinical implications in a group of 77 primary cutaneous melanoma patients treated in a cancer reference center in Brazil. Mutation analysis was accomplished by polymerase chain reaction, restriction fragment length polymorphism, and automated DNA sequencing. The chi-squared and Fischer exact tests were used for comparative analyses. The BRAF V600E mutation was detected in 54/77 (70.1%) melanoma subjects. However, no statistically significant association was found between the presence of the mutation and clinical or prognostic parameters. Our results demonstrated that the BRAF V600E mutation is a common event in melanomas, representing an important molecular target for novel therapeutic approaches in such tumors.
BRAF V600E是皮肤黑色素瘤中最常见的突变，在30%-72%的此类病例中被发现。这种突变导致BRAF蛋白第600位的缬氨酸被谷氨酸替代，从而使BRAF蛋白持续激活。本研究调查了巴西一家癌症参考中心治疗的77例原发性皮肤黑色素瘤患者中BRAF V600E突变频率及其临床意义。通过聚合酶链反应、限制性片段长度多态性和自动DNA测序完成突变分析。采用卡方检验和费舍尔精确检验进行比较分析。在54/77（70.1%）的黑色素瘤患者中检测到BRAF V600E突变。然而，未发现该突变的存在与临床或预后参数之间存在统计学上的显著关联。我们的结果表明，BRAF V600E突变在黑色素瘤中是常见事件，是此类肿瘤新型治疗方法的重要分子靶点。
