BRAFV600E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  

Correlation of BRAF V600E Mutation with Clinical Features and Prognosis of Langerhans Cell Histiocytosis in Cildren

作　　者：李希 肖莉[1] 罗明珠[1] 雷小英[1] 刘海燕[1] 姚新原 郭玉霞[1] 窦颖[1] 于洁[1] LI Xi;XIAO Li;LUO Ming-Zhu;LEI Xiao-Ying;LIU Hai-Yan;YAO Xin-Yuan;GUO Yu-Xia;DOU Ying;YU Jie(Children′sHospital of Chongqing Medical University,National Clinical Research Center for Child Health and Disorders,Chongqing Key Laboratory of Pediatrics,Ministry of Education Key Laboratory of Child Development and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院,国家儿童健康与疾病临床医学研究中心,儿科学重庆市重点实验室,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,重庆400014

出　　处：《中国实验血液学杂志》2024年第6期1917-1922,共6页Journal of Experimental Hematology

基　　金：国家重点研发计划(2022YFC2705003)。

摘　　要：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。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.

关 键 词：朗格汉斯细胞组织细胞增生症 BRAF V600E 基因突变 预后 

分 类 号：R725.5[医药卫生—儿科]