Li Xi, Xiao Li, Luo Ming-Zhu, Lei Xiao-Ying, Liu Hai-Yan, Yao Xin-Yuan, Guo Yu-Xia, Dou Ying, Yu Jie
Children's Hospital 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.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2024 Dec;32(6):1917-1922. doi: 10.19746/j.cnki.issn.1009-2137.2024.06.043.
To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.
Fluorescence PCR was used to detect gene mutations in paraffin-embedded tissue samples from 78 children with LCH, and the correlation of mutation with clinical characteristics and prognosis of LCH in children was analyzed.
Among the 78 children, 41 cases (52.6 %) had mutation, 8 cases (10.3 %) had mutation, 1 case (1.3 %) had mutation, 1 case (1.3 %) had mutation, and 1 case (1.3%) had mutation. mutation was not significantly correlated with sex, age, multisystem involvement, risk-organ involvement, CNS-risk lesions, and early treatment response in children with LCH ( >0.05), and it was also not significantly correlated with the recurrence and event-free survival (EFS) of children with LCH ( >0.05).
LCH is an inflammatory myeloid tumor. mutation is not correlated with clinical features, early treatment response, recurrence and prognosis of LCH.
探讨儿童朗格汉斯细胞组织细胞增多症的基因突变情况，分析其突变与朗格汉斯细胞组织细胞增多症（LCH）临床特征及预后的相关性，为临床诊断与治疗提供参考。
采用荧光PCR法检测78例LCH患儿石蜡包埋组织样本中的基因突变情况，并分析其突变与儿童LCH临床特征及预后的相关性。
78例患儿中，41例（52.6%）发生 突变，8例（10.3%）发生 突变，1例（1.3%）发生 突变，1例（1.3%）发生 突变，1例（1.3%）发生 突变。 突变与LCH患儿的性别、年龄、多系统受累、危险器官受累、中枢神经系统危险病变及早期治疗反应均无显著相关性（>0.05），与LCH患儿的复发及无事件生存（EFS）也无显著相关性（>0.05）。
LCH是一种炎性髓系肿瘤。 突变与LCH的临床特征、早期治疗反应、复发及预后均无相关性。
