BRAF-V600E mutation in pediatric patients with Langerhans cell histiocytosis and ts clinical features
10.3969/j.issn.1006-5725.2017.20.015
- VernacularTitle:BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症中的意义
- Author:
Junbin HUANG
1
;
Li JIANG
;
Xiaojun WU
;
Honggui XU
;
Chun CHEN
;
Hongman XUE
Author Information
1. 中山大学孙逸仙纪念医院儿科血液专科
- Keywords:
langerhans cell histiocytosis;
BRAF-V600E;
pediatric patients
- From:
The Journal of Practical Medicine
2017;33(20):3391-3394
- CountryChina
- Language:Chinese
-
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.
