BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症中的意义

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-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.