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

目的 探讨儿童朗格汉斯细胞组织细胞增生症（LCH）的BRAF-V600E基因突变的意义。方法 采用实时荧光定量PCR技术检测26例儿童LCH患儿石蜡包埋组织样本中的BRAF-V600E基因突变情况，并回顾性分析BRAF-V600E基因突变与临床特征及预后的关系。结果 25例患儿接受正规化疗，2年总生存率（OS）及无事件生存率（EFS）分别为100%、88%。70%（18/26）的病理标本来自骨组织，BRAF-V600E基因突变阳性率达50%（13/26）。BRAF-V600E基因突变与LCH患儿年龄、性别、受累器官、临床分类、早期治疗效果、复发情况以及2年OS及EFS均无相关性（P > 0.05），但与LCH的临床分组相关（P < 0.05）。结论 LCH患儿总体生存率较高，BRAF-V600E基因突变发生率高，BRAF-V600E基因突变与LCH临床分组相关。

BRAF-V600E mutation and its clinical significance in children with Langerhans cell histiocytosis

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 event-free 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.