摘要
目的探讨BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症(LCH)中的表达及临床意义。方法 2009年8月至2015年6月确诊儿童LCH 27例(其中男17例,女10例)。石蜡包埋其病理学活检标本,PCR法检测标本中BRAF-V600E突变,分析该突变与患儿临床特点、预后等的关系。结果 27例中共9例BRAF-V600E阳性(33.3%),阳性组和阴性组的组间年龄、性别、系统累及、6周反应率、3年总生存率和3年无病生存率比较差异均无统计学意义。结论儿童LCH存在BRAF-V600E突变,提示儿童LCH可能是一种肿瘤性疾病;BRAF-V600E突变在LCH发病、系统累及和疾病进展中的作用仍不明确。
Objective To investigate the BRAF-V600 E mutation in pediatric patients with Langerhanscell histiocytosis and its clinical features. Methods A retrospective study was conducted among 27 children whowere diagnosed in our hospital between August 2009 and June 2015,including 17 males and 10 females. BRAF-V600 E was amplified from tissue samples of the 27 children with LCH by PCR and the relationship was analysedbetween the mutation and clinical features,outcome. Results BRAF-V600 E mutation was found in 9 cases withinall 27 tested cases（33.3%）. Significant difference was not found in age,gender,system involvement,6-weekreaction,3-year overall survival and event-free survival between BRAF-V600 E positive and negative groups.Conclusions BRAF-V600 E mutation was found in Chinese pediatric LCH patients with positive rate of 33.3%,that indicates LCH might be a neoplastic disease. However,its definite role on disease onset,system involvementand disease progression remains unknown.
出处
《实用医学杂志》
CAS
北大核心
2017年第20期3391-3394,共4页
The Journal of Practical Medicine
基金
广东省科技计划项目(编号:2017A020215126)
