Imianitov E N
Arkh Patol. 2012 Sep-Oct;74(5):65-71.
Individual life-time risk of melanoma in white residents of highly developed countries may be as high as 2%. Continuing rise of melanoma incidence is directly related to the improving life standards, especially to growing opportunities of attending sea resorts and getting tanned. Melanoma is usually highly aggressive and resistant to standard cytotoxic therapy, therefore 5-years survival of patients with the metastatic disease does not exceed 10-15%. Approximately 50% of melanomas contain point mutation in codon 600 of the BRAF kinase. Specific inhibitors of activated BRAF have demonstrated unprecedented therapeutic efficacy, thus BRAF testing has become a mandatory component of treatment planning for inoperable melanoma. This review discusses key issues, which are related to various clinical, morphological, and molecular genetic aspects of determination of BRAF status in metastatic melanoma.
在高度发达国家的白人居民中,个体患黑色素瘤的终生风险可能高达2%。黑色素瘤发病率的持续上升与生活水平的提高直接相关,尤其是前往海滨度假胜地和晒黑的机会增加。黑色素瘤通常具有高度侵袭性,且对标准细胞毒性疗法耐药,因此转移性疾病患者的5年生存率不超过10% - 15%。大约50%的黑色素瘤在BRAF激酶的第600密码子处存在点突变。活化BRAF的特异性抑制剂已显示出前所未有的治疗效果,因此BRAF检测已成为不可手术黑色素瘤治疗计划的必要组成部分。本综述讨论了与转移性黑色素瘤BRAF状态测定的各种临床、形态学和分子遗传学方面相关的关键问题。