BRAF基因突变与中国汉族人皮肤恶性黑素瘤的关系研究  

Study on the correlation between BRAF gene mutation and malignant melanoma in Chinese Han population

作　　者：叶文正 王珊珊 李词娟 吴一文 刘汉忠 方木平 YE Wen-zheng;WANG Shan-shan;LI Ci-juan(Department of Dermatology,Xiaogan Hospital Affiliated to Wuhan University of Science and Technology,Hubei 432000,China)

机构地区：[1]武汉科技大学附属孝感医院皮肤科,432000 [2]武汉科技大学附属孝感医院病理科,432000

出　　处：《中国实用医药》2021年第23期204-208,共5页China Practical Medicine

摘　　要：目的研究BRAF基因突变与中国汉族人皮肤恶性黑素瘤临床表型和病理的关系。方法37例中国汉族人皮肤肢端恶性黑素瘤患者、42例中国汉族人皮肤非肢端恶性黑素瘤患者以及80例中国汉族人色素痣的石蜡包埋组织,利用PCR扩增和Stenger测序方法对BRAF基因11、15外显子进行测序。结果37例肢端恶性黑色瘤患者中有7例发生BRAF基因15外显子的V600E突变,突变率为18.92%;42例非肢端恶性黑素瘤患者中有17例发生BRAF基因15外显子的V600E突变,突变率为40.48%;80例色素痣患者中有5例发生BRAF基因15外显子的V600E突变,突变率为6.25%,未检测出其他突变点及11外显子突变。肢端恶性黑色瘤、非肢端恶性黑素瘤患者BRAF基因突变率高于色素痣患者,差异具有统计学意义(P<0.05)。不同年龄、部位、溃疡情况、Breslow厚度以及临床分期恶性黑素瘤患者BRAF基因突变情况比较差异具有统计学意义(P<0.05);不同性别恶性黑素瘤患者BRAF基因突变情况比较差异无统计学意义(P>0.05)。多个临床表型及病理特点和BRAF基因突变有关。结论中国汉族人皮肤非肢端恶性黑素瘤BRAF基因突变率高于肢端恶性黑素瘤患者,且主要位于15外显子V600E突变,色素痣也可以检出少量突变,BRAF基因突变和黑素瘤患者年龄、部位、溃疡、Breslow厚度及临床分期有关,和性别无关,检测结果对指导临床治疗及评估患者预后有重要意义。Objective To investigate the correlation between BRAF gene mutation and malignant melanoma in Chinese Han population.Methods Paraffin-embedded tissues of 37 patients with acral malignant melanoma,42 patients with non-acral malignant melanoma and 80 patients with pigmented nevus in Chinese Han population were collected.The exons 11 and 15 of BRAF gene were sequenced by PCR amplification and Stenger sequencing.Results Among 37 patients with acral cutaneous malignant melanoma,7 cases developed the V600E mutation in exon 15 of the BRAF gene,and the mutation rate was 18.92%;among 42 patients with non-acral malignant melanoma,17 cases developed the V600E mutation in exon 15 of the BRAF gene,and the mutation rate was 40.48%;among 80 patients with pigmented nevus,5 cases were detected with the V600E mutation in exon 15 of the BRAF gene,and the mutation rate was 6.25%,no other point mutation and exon 11 mutations were detected.The BRAF gene mutation rate of patients with acral malignant melanoma and non-acral malignant melanoma was higher than that of patients with pigmented nevus,and the difference was statistically significant(P<0.05).There were statistically significant differences in BRAF gene mutations in patients with different ages,locations,ulcers,Breslow thickness,and clinical stages of malignant melanoma(P<0.05).There was no significant difference in BRAF gene mutation between male and female patients with malignant melanoma(P>0.05).Multiple clinical phenotypes and pathological features were related to BRAF gene mutations.Conclusion The mutation rate of BRAF gene in non-acral malignant melanoma of Chinese Han population is higher than that in patients with acral malignant melanoma,and it is mainly located in exon 15 V600E mutation.A small amount of mutations can also be detected in pigmented nevus,BRAF gene mutation is correlated with age,location,ulcer,breslow thickness and clinical stage of melanoma patients,but not to gender.The detection results are of great significance for guiding clinical treatment and ev

关 键 词：BRAF基因 突变 中国汉族人 恶性黑色素瘤 

分 类 号：R739.5[医药卫生—肿瘤]