实用医学杂志2017，Vol.33Issue(20)：3391-3394,4.DOI:10.3969/j.issn.1006-5725.2017.20.015
BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症中的意义
BRAF-V600E mutation in pediatric patients with Langerhans cell histiocytosis and ts clinical features
摘要
Abstract
Objective To investigate the BRAF-V600E mutation in pediatric patients with Langerhans cell histiocytosis and its clinical features. Methods A retrospective study was conducted among 27 children who were diagnosed in our hospital between August 2009 and June 2015 ,including 17 males and 10 females. BRAF-V600E was amplified from tissue samples of the 27 children with LCH by PCR and the relationship was analysed between the mutation and clinical features ,outcome. Results BRAF-V600E mutation was found in 9 cases within all 27 tested cases(33.3%). Significant difference was not found in age ,gender ,system involvement ,6-week reaction ,3-year overall survival and event-free survival between BRAF-V600E positive and negative groups. Conclusions BRAF-V600E 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 involvement and disease progression remains unknown.关键词
朗格汉斯细胞组织细胞增生症/BRAF-V600E/儿童Key words
langerhans cell histiocytosis/BRAF-V600E/pediatric patients引用本文复制引用
黄俊彬,江莉,吴晓君,徐宏贵,陈纯,薛红漫..BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症中的意义[J].实用医学杂志,2017,33(20):3391-3394,4.基金项目
广东省科技计划项目(编号:2017A020215126) （编号:2017A020215126）
