Xi Li, Li Xiao, Ming-Zhu Luo, Xiao-Ying Lei, Hai-Yan Liu, Xin-Yuan Yao, Yu-Xia Guo, Ying Dou, Jie Yu
{"title":"[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]。","authors":"Xi Li, Li Xiao, Ming-Zhu Luo, Xiao-Ying Lei, Hai-Yan Liu, Xin-Yuan Yao, Yu-Xia Guo, Ying Dou, Jie Yu","doi":"10.19746/j.cnki.issn.1009-2137.2024.06.043","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of <i>BRAF V600E</i> mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.</p><p><strong>Methods: </strong>Fluorescence PCR was used to detect gene mutations in paraffin-embedded tissue samples from 78 children with LCH, and the correlation of <i>BRAF V600E</i> mutation with clinical characteristics and prognosis of LCH in children was analyzed.</p><p><strong>Results: </strong>Among the 78 children, 41 cases (52.6 %) had <i>BRAF V600E</i> mutation, 8 cases (10.3 %) had <i>MAP2K1</i> mutation, 1 case (1.3 %) had <i>BRAF Exon 12</i> mutation, 1 case (1.3 %) had <i>ARAF</i> mutation, and 1 case (1.3%) had <i>PIK3CA</i> mutation. <i>BRAF V600E</i> mutation was not significantly correlated with sex, age, multisystem involvement, risk-organ involvement, CNS-risk lesions, and early treatment response in children with LCH (<i>P</i> >0.05), and it was also not significantly correlated with the recurrence and event-free survival (EFS) of children with LCH (<i>P</i> >0.05).</p><p><strong>Conclusion: </strong>LCH is an inflammatory myeloid tumor. <i>BRAF V600E</i> mutation is not correlated with clinical features, early treatment response, recurrence and prognosis of LCH.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"32 6","pages":"1917-1922"},"PeriodicalIF":0.0000,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Correlation of <i>BRAF V600E</i> Mutation with Clinical Features and Prognosis of Langerhans Cell Histiocytosis in Cildren].\",\"authors\":\"Xi Li, Li Xiao, Ming-Zhu Luo, Xiao-Ying Lei, Hai-Yan Liu, Xin-Yuan Yao, Yu-Xia Guo, Ying Dou, Jie Yu\",\"doi\":\"10.19746/j.cnki.issn.1009-2137.2024.06.043\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To explore the gene mutations of Langerhans cell histiocytosis in children, and to analyze the correlation of <i>BRAF V600E</i> mutation with clinical features and prognosis of LCH, so as to provide reference for clinical diagnosis and treatment.</p><p><strong>Methods: </strong>Fluorescence PCR was used to detect gene mutations in paraffin-embedded tissue samples from 78 children with LCH, and the correlation of <i>BRAF V600E</i> mutation with clinical characteristics and prognosis of LCH in children was analyzed.</p><p><strong>Results: </strong>Among the 78 children, 41 cases (52.6 %) had <i>BRAF V600E</i> mutation, 8 cases (10.3 %) had <i>MAP2K1</i> mutation, 1 case (1.3 %) had <i>BRAF Exon 12</i> mutation, 1 case (1.3 %) had <i>ARAF</i> mutation, and 1 case (1.3%) had <i>PIK3CA</i> mutation. <i>BRAF V600E</i> mutation was not significantly correlated with sex, age, multisystem involvement, risk-organ involvement, CNS-risk lesions, and early treatment response in children with LCH (<i>P</i> >0.05), and it was also not significantly correlated with the recurrence and event-free survival (EFS) of children with LCH (<i>P</i> >0.05).</p><p><strong>Conclusion: </strong>LCH is an inflammatory myeloid tumor. <i>BRAF V600E</i> mutation is not correlated with clinical features, early treatment response, recurrence and prognosis of LCH.</p>\",\"PeriodicalId\":35777,\"journal\":{\"name\":\"中国实验血液学杂志\",\"volume\":\"32 6\",\"pages\":\"1917-1922\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国实验血液学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.06.043\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国实验血液学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2024.06.043","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Correlation of BRAF V600E Mutation with Clinical Features and Prognosis of Langerhans Cell Histiocytosis in Cildren].
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.