先天性黑素细胞痣基因突变类型分析及临床意义

组织工程与重建外科杂志 ›› 2023, Vol. 19 ›› Issue (3): 258-.

先天性黑素细胞痣基因突变类型分析及临床意义

出版日期:2023-06-01 发布日期:2023-07-05

Analysis of mutation type and clinical significance of congenital melanocytic nevi

Online:2023-06-01 Published:2023-07-05

摘要/Abstract

摘要：

目的　探索巨大先天性黑素细胞痣的分子遗传学特征与临床意义。方法　采用二代高通量测序技术对确诊

巨大先天性黑素细胞痣患者样本进行全外显子测序和生信分析。结果　25 例患者的 50 个样本（25 对组织与血液配对）

中，21 例患者存在体细胞突变，突变基因包括 NRAS 基因（19 例）、BRAF 基因（1 例），2 例患者病灶以及血液中

均检测到新的突变，突变基因为 MET 基因（1 例）、IDH1 基因（1 例）；另外 4 例患者未检测出致病突变。结论

NRAS 是巨大先天性黑素细胞痣的最主要的基因突变类型，BRAF 基因也被检出；同时还发现了潜在的新突变 IDH1

和 MET 基因。

关键词:

　巨痣 , 　先天性黑素细胞痣 , 　全外显子测序 , 　基因突变

Abstract:

Objective To explore the molecular characteristics of giant congenital melanocytic nevi (GCMN) and their

clinical significance. Methods The samples of patients diagnosed with GCMN were subjected whole-exome sequencing and

bio-information analysis to clarify the pathogenic genes and distribution patterns. Results In 50 samples (25 pairs of tissues

and blood) from 25 patients, 21 patients had somatic mutations, including NRAS gene (19 cases) and BRAF gene (1 case). New

mutations were detected in 2 patients’

lesions and blood, and the mutant genes were MET gene and IDH1 gene. In addition,

no causative mutation was detected in 4 patients. There was no statistic difference between GCMN genotype and phenotype.

Conclusion NRAS somatic mutation is the most common mutation in GCMN, and BRAF gene has also been detected. Potential

new mutated IDH1 and MET genes were also found.

Key words:

Giant nevus, 　Congenital melanocytic nevus, 　Whole-exome sequencing, 　Gene mutation

赵一菲　邹运　陈辉　林晓曦.

先天性黑素细胞痣基因突变类型分析及临床意义

[J]. 组织工程与重建外科杂志, 2023, 19(3): 258-.

ZHAO Yifei, ZOU Yun, CHEN Hui, et al.

Analysis of mutation type and clinical significance of congenital melanocytic nevi [J]. Journal of Tissue Engineering and Reconstructive Surgery, 2023, 19(3): 258-.