不同人群和组织学亚型黑色素瘤中 BRAF、NRAS 和 KIT 基因突变的频率:系统评价。
Frequency of mutations in BRAF, NRAS, and KIT in different populations and histological subtypes of melanoma: a systemic review.
机构信息
Teaching and Research Office, Hospital Universitario-Centro Dermatológico Federico Lleras Acosta, E.S.E., Bogotá, Colombia.
出版信息
Melanoma Res. 2020 Feb;30(1):62-70. doi: 10.1097/CMR.0000000000000628.
The presence of mutations of BRAF, NRAS, and KIT genes is recognized as playing a role during carcinogenesis. Our study aims to evaluate and review other studies that present the frequency of mutations of BRAF, NRAS, and KIT genes for different populations, and analyse correlation to their clinical-pathological characteristics and to the demographics of melanoma. Thirty-two articles were selected from a collection of published literature studying 6299 patients. The parameters for correlation to different variables were calculated by odds ratio, for random and single effects. 38.5% of patients present BRAF gene mutations, 16.4% in NRAS, and 10% in KIT. Mutations of the BRAF gene were correlated to superficial spreading melanoma (odds ratio = 1.31), localization in the torso (odds ratio = 1.42) and presence of metastases. Mutations in NRAS were correlated to nodular melanoma (odds ratio = 1.57), localized in the limbs (odds ratio = 1.31). Mutations of the KIT gene were correlated to mucosal melanoma (odds ratio = 1.59). Populations in Brazil, the US, Sweden, Italian, and Australia were found to be correlated to mutations of BRAF and melanoma. Populations in Italy, Sweden, Spain, and the US were found to be correlated to mutations of NRAS. Populations in Japan, China, Turkey, Canada, and Russia were found to be correlated to mutations of KIT. Data correlated to the presence of melanoma and population type is due to the amount of studies performed across of globe.
BRAF、NRAS 和 KIT 基因的突变被认为在致癌作用中发挥作用。我们的研究旨在评估和回顾其他研究,这些研究报告了不同人群中 BRAF、NRAS 和 KIT 基因的突变频率,并分析其与临床病理特征和黑色素瘤人群的相关性。从研究 6299 名患者的已发表文献中选择了 32 篇文章。通过比值比计算了与不同变量相关性的参数,包括随机和单一效应。38.5%的患者存在 BRAF 基因突变,16.4%存在 NRAS 基因突变,10%存在 KIT 基因突变。BRAF 基因突变与浅表扩散性黑色素瘤(比值比=1.31)、躯干定位(比值比=1.42)和转移存在相关。NRAS 基因突变与结节性黑色素瘤(比值比=1.57)、肢体定位(比值比=1.31)相关。KIT 基因突变与黏膜黑色素瘤(比值比=1.59)相关。在巴西、美国、瑞典、意大利和澳大利亚的人群中发现与 BRAF 和黑色素瘤的突变相关。在意大利、瑞典、西班牙和美国的人群中发现与 NRAS 突变相关。在日本、中国、土耳其、加拿大和俄罗斯的人群中发现与 KIT 突变相关。与黑色素瘤和人群类型相关的数据归因于全球范围内进行的研究数量。