BRAF V600E突变蛋白在皮肤黑素瘤中的表达

目的 探讨皮肤黑素瘤BRAF V600E突变蛋白表达情况，分析免疫组化法检测V600E突变的灵敏度和特异度。 方法 应用抗BRAF V600E单克隆抗体的免疫组化法检测103例皮肤黑素瘤、40例色素痣石蜡包埋组织切片中BRAF V600E突变蛋白表达水平。采用SPSS 17.0统计软件进行统计分析，率的比较采用χ2检验。 结果 BRAF V600E突变蛋白阳性表达率在皮肤黑素瘤中为20.4%（21/103），色素痣中为5.0%（2/40），两组差异有统计学意义（χ2 = 5.06，P < 0.05）。黑素瘤BRAF V600E突变蛋白的表达率在不同年龄组［＜ 60岁组表达率为29.8%（14/47）， ≥ 60岁组为12.5%（7/56）］、不同民族［维吾尔族组为30.2%（13/43），汉族组为13.3%（8/60）］、不同发病部位［肢端为13.6%（6/42）、黏膜为11.8%（4/29）、非肢端为45.8%（11/32）］、不同Clark分级［Ⅰ ~ Ⅲ级组为8.6%（4/42），Ⅳ ~ Ⅴ级组为12.4%（17/61）］组间表达差异均有统计学意义（P < 0.05），而在不同性别、有无淋巴结转移组间表达差异均无统计学意义（P ＞ 0.05）。免疫组化检测恶性黑素瘤中BRAF V600E突变灵敏度为100%（15/15），特异度为98.5%（65/66）。 结论 BRAF V600E突变蛋白在皮肤黑素瘤中高表达，在维吾尔族人群表达率高于汉族人群；免疫组化法检测BRAF V600E突变具有准确、快速等特点。

Expression of BRAF V600E mutant protein in cutaneous malignant melanoma

Ren Danyang, Kang Xiaojing*, Yu Shirong, Shi Xiaohui, Wu Xiujuan, Jin Ying, Pu Xiongming. *Department of Dermatology and Venereology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, ChinaCorresponding author: Kang Xiaojing, Email: drkangxj666@163.com 【Abstract】 Objective To detect the expression of BRAF V600E mutant protein in cutaneous malignant melanoma （CMM）, and to evaluate the sensitivity and specificity of immunohistochemistry （IHC） in detecting BRAF V600E mutation. Methods IHC with an anti-BRAF V600E monoclonal antibody was performed to detect the expression of BRAF V600E mutant protein in paraffin-embedded tissue sections from 103 patients with CMM and 40 patients with nevus. Statistical analysis was carried out with SPSS software version 17.0, and the expression rate of BRAF V600E mutant protein was compared by chi-square test. Results The expression rate of BRAF V600E mutant protein in the CMM patients was 20.4% （21/103）, significantly higher than that in the nevus patients （5.0% （2/40）, χ2 = 5.06, P < 0.05）. Significant differences were observed in the expression rate of BRAF V600E mutant protein between CMM patients of different age groups （29.8% （14/47） in patients aged < 60 years vs. 12.5% （7/56） in those aged ≥ 60 years, P < 0.05） and nationality （30.2% （13/43） for Uygur nationality vs. 13.3% （8/60） for Han nationality, P < 0.05）, as well as among CMM lesions from different anatomical sites （13.6% （6/42） in acral sites vs. 11.8% （4/29） in mucous membrane vs. 45.8% （11/32） in non-acral sites, P < 0.05） and of different Clark levels （8.6% （4/42） for grade Ⅰ－Ⅲ vs. 12.4% （17/61） for grade Ⅳ－Ⅴ, P < 0.05）, but not between male and female CMM patients or between CMM patients with lymph node metastasis and those without （both P > 0.05）. IHC with the anti-BRAF V600E antibody showed a sensitivity of 100% （15/15） and a specificity of 98.5% （65/66） in detecting BRAF V600E mutation. Conclusions The expression of BRAF V600E mutant protein is up-regulated in CMM lesions, and CMM patients of Uygur nationality seems to have a higher expression rate than those of Han nationality. IHC appears to be an accurate and rapid method to detect V600E BRAF mutation.