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

Q4 Medicine
Xi Li, Li Xiao, Ming-Zhu Luo, Xiao-Ying Lei, Hai-Yan Liu, Xin-Yuan Yao, Yu-Xia Guo, Ying Dou, Jie Yu
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引用次数: 0

Abstract

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.

[BRAF V600E突变与儿童朗格汉斯细胞组织细胞增多症临床特征及预后的相关性]。
目的:探讨儿童朗格汉斯细胞组织细胞增多症的基因突变情况,分析BRAF V600E突变与LCH临床特征及预后的相关性,为临床诊断和治疗提供参考。方法:采用荧光PCR方法对78例LCH患儿石蜡包埋组织样本进行基因突变检测,分析BRAF V600E突变与LCH患儿临床特征及预后的相关性。结果:78例患儿中,BRAF V600E突变41例(52.6%),MAP2K1突变8例(10.3%),BRAF 12外显子突变1例(1.3%),ARAF突变1例(1.3%),PIK3CA突变1例(1.3%)。BRAF V600E突变与LCH患儿的性别、年龄、多系统累及、危险器官累及、cns危险病变、早期治疗反应无显著相关性(P >0.05),与LCH患儿的复发及无事件生存率(EFS)无显著相关性(P >0.05)。结论:LCH是一种炎性髓系肿瘤。BRAF V600E突变与LCH的临床特征、早期治疗反应、复发及预后无关。
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来源期刊
中国实验血液学杂志
中国实验血液学杂志 Medicine-Medicine (all)
CiteScore
0.40
自引率
0.00%
发文量
7331
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