中国当代儿科杂志2018，Vol.20Issue(4)：290-294,5.DOI:10.7499/j.issn.1008-8830.2018.04.007
儿童朗格汉斯细胞组织细胞增生症的BRAF-V600E基因突变及临床意义
BRAF-V600E mutation and its clinical significance in children with Langerhans cell histiocytosis
摘要
Abstract
Objective To investigate the clinical significance of BRAF-V600E mutation in children with Langerhans cell histiocytosis (LCH).Methods Real-time fluorescence quantitative PCR was used to detect BRAF-V600E mutation in paraffin-embedded tissue samples from 26 children with LCH.A retrospective analysis was performed for the association of BRAF-V600E mutation with clinical features and prognosis of children with LCH.Results Of the 26 children,25 received standard chemotherapy,with a 2-year overall survival (OS) rate of 100％ and a 2-year eventfree survival (EFS) rate of 88％.Of the 26 pathological samples,18 (70％) came from bone tissue,and the positive rate of BRAF-V600E mutation reached 50％ (13/26).The positive rate of BRAF-V600E gene mutation was not associated with age,sex,affected organ,clinical classification,early treatment response,recurrence,and 2-year OS and EFS rates of the children with LCH (P＞0.05),but it was associated with clinical grouping of LCH (P＜0.05).Conclusions Children with LCH tend to have a high OS rate and a high incidence rate of BRAF-V600E mutation.BRAF-V600E mutation is associated with clinical grouping of LCH.关键词
朗格汉斯细胞组织细胞增生症/BRAF-V600E基因突变/实时荧光定量PCR/儿童Key words
Langerhans cell histiocytosis/BRAF-V600E mutation/Real-time fluorescence quantitative PCR/Child引用本文复制引用
唐雪,郭霞,孙林雍,艾媛,杨雪,孙静静,吴剑蓉,高举..儿童朗格汉斯细胞组织细胞增生症的BRAF-V600E基因突变及临床意义[J].中国当代儿科杂志,2018,20(4):290-294,5.基金项目
四川省科技应用基础研究项目(2015JY0044). （2015JY0044）
