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Abstract：
BACKGROUND: A lot of congenital melanocytic nevi (CMN) carry the somatic mutation in the oncogene BRAF V600E. But the detailed histopathologic characteristics and the proliferative activity of CMN with BRAF V600E gene mutation have not been systematically documented.
OBJECTIVE: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.
METHODS: CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.
RESULTS: The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.
CONCLUSIONS: A small sample of patients were included and there was no follow-up.
CONCLUSIONS: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.
OBJECTIVE: To identify the proliferative activity and histopathological features correlating them with BRAF V600E gene mutation status in CMN.
METHODS: CMN were retrospectively identified from the laboratory reporting system. Mutations were determined by Sanger sequencing. The CMN were divided into a mutant group and control group according to whether there was BRAF gene mutation and were strictly matched according to gender, age, nevus size, and location. Histopathological analysis, analysis of Ki67 expression by immunohistochemistry and laser confocal fluorescence microscopy were performed.
RESULTS: The differences in Ki67 index, the depth of nevus cell involvement and the number of nevus cell nests between the mutant group and the control group was statistically significant, with p-values of 0.041, 0.002 and 0.007, respectively. Compared with BRAF V600E negative nevi, BRAF V600E positive nevi often exhibited predominantly nested intraepidermal melanocytes, and larger junctional nests, but the difference in this data sets were not statistically significant. The number of nests (p = 0.001) was positively correlated with the proportion of Ki67 positive cells.
CONCLUSIONS: A small sample of patients were included and there was no follow-up.
CONCLUSIONS: BRAF V600E gene mutations were associated with high proliferative activity and distinct histopathological features in congenital melanocytic nevi.
摘要：
背景：许多先天性黑素细胞痣（CMN）在癌基因BRAFV600E中携带体细胞突变。但是，尚未系统地记录具有BRAFV600E基因突变的CMN的详细组织病理学特征和增殖活性。
目的：鉴定CMN中与BRAFV600E基因突变状态相关的增殖活性和组织病理学特征。
方法：CMN从实验室报告系统进行回顾性鉴定。通过Sanger测序确定突变。根据是否有BRAF基因突变将CMN分为突变组和对照组，并按性别严格匹配，年龄,痣大小,和位置。组织病理学分析,通过免疫组织化学和激光共聚焦荧光显微镜分析Ki67的表达。
结果：Ki67指数的差异，突变组与对照组的痣细胞受累深度和痣细胞巢的数量具有统计学意义，p值分别为0.041、0.002和0.007。与BRAFV600E阴性痣相比，BRAFV600E阳性痣通常主要表现为巢状表皮内黑素细胞，和较大的交界巢，但这些数据集的差异无统计学意义.巢数(p=0.001)与Ki67阳性细胞比例呈正相关。
结论：纳入了小样本患者，没有随访。
结论：BRAFV600E基因突变与先天性黑素细胞痣的高增殖活性和独特的组织病理学特征相关。
目的：鉴定CMN中与BRAFV600E基因突变状态相关的增殖活性和组织病理学特征。
方法：CMN从实验室报告系统进行回顾性鉴定。通过Sanger测序确定突变。根据是否有BRAF基因突变将CMN分为突变组和对照组，并按性别严格匹配，年龄,痣大小,和位置。组织病理学分析,通过免疫组织化学和激光共聚焦荧光显微镜分析Ki67的表达。
结果：Ki67指数的差异，突变组与对照组的痣细胞受累深度和痣细胞巢的数量具有统计学意义，p值分别为0.041、0.002和0.007。与BRAFV600E阴性痣相比，BRAFV600E阳性痣通常主要表现为巢状表皮内黑素细胞，和较大的交界巢，但这些数据集的差异无统计学意义.巢数(p=0.001)与Ki67阳性细胞比例呈正相关。
结论：纳入了小样本患者，没有随访。
结论：BRAFV600E基因突变与先天性黑素细胞痣的高增殖活性和独特的组织病理学特征相关。
