Correlation of BRAF V600E Mutation with Clinical Features and Prognosis of Langerhans Cell Histiocytosis in Cildren
10.19746/j.cnki.issn1009-2137.2024.06.043
- VernacularTitle: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
- Author:
Xi LI
1
;
Li XIAO
;
Ming-Zhu LUO
;
Xiao-Ying LEI
;
Hai-Yan LIU
;
Xin-Yuan YAO
;
Yu-Xia GUO
;
Ying DOU
;
Jie YU
Author Information
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
- Keywords:
Langerhans cell histiocytosis;
BRAF V600E;
gene mutation;
prognosis
- From:
Journal of Experimental Hematology
2024;32(6):1917-1922
- CountryChina
- Language:Chinese
-
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.
