Objective: To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of BRAF V600E mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.
Methods: Fluorescence PCR was used to detect gene mutations in paraffin-embedded tissue samples from 78 children with LCH, and the correlation of BRAF V600E mutation with clinical characteristics and prognosis of LCH in children was analyzed.
Results: Among the 78 children, 41 cases (52.6 %) had BRAF V600E mutation, 8 cases (10.3 %) had MAP2K1 mutation, 1 case (1.3 %) had BRAF Exon 12 mutation, 1 case (1.3 %) had ARAF mutation, and 1 case (1.3%) had PIK3CA mutation. BRAF V600E mutation was not significantly correlated with sex, age, multisystem involvement, risk-organ involvement, CNS-risk lesions, and early treatment response in children with LCH (P >0.05), and it was also not significantly correlated with the recurrence and event-free survival (EFS) of children with LCH (P >0.05).
Conclusion: LCH is an inflammatory myeloid tumor. BRAF V600E mutation is not correlated with clinical features, early treatment response, recurrence and prognosis of LCH.
题目: BRAF V600E 突变与儿童朗格汉斯细胞组织细胞增生症的临床特征及预后的相关性分析.
目的: 探讨儿童朗格汉斯细胞组织细胞增生症（LCH）基因突变情况，分析BRAF V600E 基因突变与LCH的临床特征及预后的相关性，为临床诊治提供参考。.
方法: 采用荧光PCR法检测78例LCH患儿石蜡包埋组织样本的基因突变情况，分析LCH患儿BRAF V600E 基因突变与其临床特征及预后之间的相关性。.
结果: 78例患儿中BRAF V600E 基因突变阳性41例（52.6%），MAP2K1 基因突变阳性8例（10.3%）， BRAF Exon 12突变阳性1例（1.3%），ARAF 基因突变阳性1例（1.3%），PIK3CA 基因突变阳性1例（1.3%）。BRAF V600E 基因突变与LCH患儿性别、年龄、多系统受累、危险器官受累、中枢神经（CNS）危险性病变、早期治疗反应无明显统计学相关性（P >0.05），与LCH复发及无事件生存（EFS）也无明显统计学相关性（P >0.05）。.
结论: LCH是一种炎性髓系肿瘤，BRAF V600E 基因突变与其临床特征、早期治疗反应、复发及预后无关。.
Keywords:
Langerhans cell histiocytosis;