BRAF基因突变表达与人类恶性黑色素瘤易感病理亚型的Meta分析

Meta-analysis on mutation expression of BRAF gene of human malignant melanoma pathology subtype

目的:通过Meta分析,探讨BRAF基因突变与人类恶性黑色素瘤病理亚型发病的相关性。方法:制定原始文献的纳入、排除标准及检索策略,全面检索万方、维普、cnki中文数据库及Pub Med、Embase、Web Of Science、Elsevier Science Direct和Cochrane Library英文数据库,同时辅以文献追溯法,获得符合纳入标准的文献,剔除不符合要求的文献,采用Rev Man5.3.3分析软件对提取的相关数据进行Meta分析,最后对研究结果进行定量合并。结果:总计运用Meta分析文献13篇,(其中,中文文献3篇,英文文献10篇),累计总病例数为583例。Meta分析结果显示,肢端性恶性黑素瘤的合并BRAF突变率=21%(95%CI17%~25%);非肢端性恶性黑色素瘤的合并BRAF突变率=50.22%(95%CI42.22%~59.82%);黏膜性恶性黑素瘤的合并BRAF突变率=17.52%(95%CI13.15%~23.39%);结节性恶性黑素瘤的合并BRAF突变率=49.35%(95%CI40.57%~57.33%);浅表扩散性恶性黑素瘤的合并BRAF突变率=49.13%(95%CI41.09%~56.94%)。结论:BRAF突变在非肢端、结节性、浅表扩散性恶性黑色素瘤中常见;显示BRAF突变可能是非肢端、结节性、浅表扩散性恶性黑色素瘤的主要遗传学因素。BRAF基因的突变率在黏膜性、肢端性恶性黑色素瘤中较不常见,说明BRAF突变可能是黏膜性及肢端性恶性黑色素瘤中发病的次要遗传学因素。

Objective： Meta-analysis was used to investigate the association between BRAF gene mutation and pathology subtype of human malignant melanoma. Method： To formulate the original literature of the inclusion,exclusion criteria and search strategy,a comprehensive search of Chinese and English database,including Wanfang database,VPCS and CNKI,Pub Med,Embase,Web Of Science,Elsevier Science Direct and Cochrane Library database,supplemented by literature retrospective method to obtain as much as possible all the required literature,Meta-analysis of the extracted data was carried out by Rev Man 5. 3. 3 analysis software. Finally,the results were quantitatively merged. Results： A total of 13 articles were included,including 10 English documents and 3 Chinese literatures. The total number of articles was 583. Meta-analysis showed that the mutation rate of the BRAF gene was 21%（95% CI 17% ~ 25%）,the mutation rate of the non-acral malignant melanoma with BRAF gene was 50. 22%（95% CI 13. 15% ~ 23. 39%）. The mutation rate of Mucosal melanoma with BRAF gene was 17. 52%（95% CI 13. 15% ~ 23. 39%）. The mutation rate of nodular melanoma with BRAF gene was 49. 35%（95% CI 40. 57% ~ 57. 33%）. The mutation rate of superficial diffuse malignant melanoma with BRAF gene was 49. 13%（95% CI 41. 09% ~ 56. 94%）. Conclusion：BRAF gene mutation is common in non-acral,nodular and superficial diffuse malignant melanoma. It is shown that BRAF mutation may be the main genetic factor of non-acral,nodular and superficial diffuse malignant melanoma. The mutation rate of the combined BRAF gene is less common in mucosal and acral malignant melanoma,suggesting that mutations in the BRAF gene may be secondary genetic factors in the pathogenesis of Mucosal and acral malignant melanoma.