先天性黑素细胞痣基因突变类型分析及临床意义

Analysis of mutation type and clinical significance of congenital melanocytic nevi

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。

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.