BRAF基因V600E突变在儿童朗格罕细胞组织细胞增生症中的临床意义

摘要

Objective To investigate the BRAF V600E mutation in pediatric patients with langerhans cell histiocytosis (LCH) and its clinical significance in a single-center study.Methods A retrospective analysis was performed in LCH patients registered between January and December in 2014 and all of them were pathological diagnosed.We detected BRAF V600E mutation in pathological specimens and serum of patients by next generation sequencing (NGS).Statistical software SPSS18.0 was used for data analysis and processing.Results BRAF V600E mutation was found in 68％ pathological specimens and 59％ serum,with 42 cases (53％) double positive,15 cases (19％) double negative,23 cases (29％) single positive.The correlation was analyzed between groups with or without BRAF V600E mutation in patients' age,gender,clinical group,involved organs,initial therapy response or relapse.The results did not show significant relevance,while P values were 0.737,0.06,0.718,0.727,0.739 and 0.879 respectively in serum positive groups,and 0.303,0.88,0.519,0.728,0.088 and 0.065 respectively in pathological positive groups.Conclusions There was high positive rate of BRAF V600E mutation in pediatric patients with LCH,suggesting that some patients had cloned cells.The research did not find relevance of BRAF V600E mutation in clinical manifestation,treatment response and prognosis of LCH children.Negative results may due to the small sample size of this study.Sample size remains to be expanded in further research.%目的 探讨单中心儿童朗格罕细胞组织细胞增生症(LCH)患者BRAF基因V600E突变情况及其临床意义.方法 回顾性分析80例首都医科大学附属北京儿童医院2014年1月-2014年12月期间经病理诊断的LCH患者的临床资料,用二代基因测序的方法检测其病理标本及血浆中BRAF基因V600E突变.采用SPSS 18.0统计软件进行数据分析处理.结果 本组研究中病理标本检测BRAF基因V600E突变的阳性率68％,血浆样本检测阳性率59％.其中双阳性42例(53％),双阴性15例(19％).对血浆或病理阳性患者BRAF基因V600E突变与年龄、性别、临床分组、受累器官、早期治疗反应、复发进行相关性分析,血浆阳性组P值分别为:0.737,0.06,0.718,0.727,0.739,0.879;病理标本阳性组P值分别为:0.303,0.88,0.519,0.728,0.088,0.065,提示差异均无显著性.结论 本组儿童LCH患者存在较高的BRAF基因V600E突变,提示部分患者组织细胞呈克隆性生长.该研究未发现BRAF基因V600E突变与LCH患者临床表现、治疗反应和预后的相关性,也许与本研究样本量少有关,仍有待于扩充样本量进一步研究.