中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (2): 77-81.doi: 10.12144/zgmfskin202302077

• 论著 • 上一篇    下一篇

BRAF(V600E)基因突变与儿童先天性色素痣的增殖活性及组织病理学特征的相关性研究

陈见友,苏伟,刘晓雁,张高磊   

  1. 首都儿科研究所附属儿童医院皮肤科，北京,100020
  • 出版日期:2023-02-15 发布日期:2022-12-27

Correlation of BRAF V600E gene mutation with proliferative activity and histopathological characteristics of congenital melanocytic nevi in children

CHEN Jianyou, SU Wei, LIU Xiaoyan, ZHANG Gaolei   

  1. Department of Dermatology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China
  • Online:2023-02-15 Published:2022-12-27

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摘要： 目的：明确先天性色素痣（congenital melanocytic nevi，CMN）中BRAF(V600E)基因突变对其增殖活性和组织病理学的影响。方法：回顾分析2018年12月至2020年12月我院皮肤科诊治的185例CMN患儿，所有患儿均进行基因检测、病理检查和Ki67免疫组化检测。根据基因检测结果是否存在BRAFV600E突变，将入选患儿分为突变组和对照组，然后再根据性别、年龄、皮损大小和皮损部位进行配对后进一步研究。结果：突变组Ki67指数、痣细胞累及深度、痣细胞巢个数、痣细胞巢大小与对照组比较差异均有统计学意义(均P<0.05)。与BRAF V600E阴性的CMN相比，BRAF(V600E)阳性CMN通常在表真皮交界部位形成黑素细胞巢，且巢较大。痣细胞累及深度和痣细胞巢个数与Ki67指数之间成正相关（均P<0.05）。结论：BRAF(V600E)基因突变使CMN的增殖活性明显升高，并对其组织病理学有特殊的影响。

关键词: ki67, BRAF(V600E), 基因, 先天性色素痣

Abstract: Objective: To identify the correlation of proliferative activity and histopathological features associated with mutation status of BRAF(V600E) gene in congenital melanocytic nevi (CMN). Methods: 185 patients with CMN were collected from December 2018 to December 2020 in Department of Dermatology in our hospital. Mutations in all patients were detected by Sanger sequencing. The CMN were divided into mutant group and control group according to whether there was BRAF(V600E) gene mutation, and were strictly matched according to gender, age, nevus size and anatomical site. Histopathological analysis and laser confocal fluorescence microscopy were performed. Results: There were significant differences in Ki67 index, the depth of nevus cell involvement, the number of nevus cell nests and nest size between the mutant group and the control group (Ps<0.05). Compared with the patients of BRAF V600E negative nevi, the patients of BRAF(V600E) positive nevi were usually dominated by nested intraepidermal melanocytes, with larger nests. The number of the nevus cell nests (P=0.009) and the depth of nevus cell (P=0.015) were positively correlated with the Ki67 expression. Conclusion: BRAF(V600E) gene mutations are associated with high proliferative activity and unique histopathological features in congenital melanocytic nevi.

Key words: Ki67, BRAF(V600E), gene, congenital melanocytic nevus