BRAF-V600E突变在儿童朗格汉斯细胞组织细胞增生症中的意义
发布时间：2019-01-30 12:49
【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。
[Abstract]:Objective to investigate the expression and clinical significance of BRAF-V600E mutation in children with Langerhans cell histiocytosis (LCH). Methods from August 2009 to June 2015, 27 children (17 males and 10 females) with LCH were diagnosed. The pathological biopsy specimens were embedded in paraffin and the BRAF-V600E mutation was detected by PCR method. The relationship between the mutation and the clinical characteristics and prognosis of the children was analyzed. Results there was no significant difference in age, sex, systemic involvement, 6-week reaction rate, 3-year overall survival rate and 3-year disease-free survival rate between the positive group and the negative group (33.3%). Conclusion the existence of BRAF-V600E mutation in LCH in children suggests that LCH in children may be a tumor disease, and the role of BRAF-V600E mutation in the pathogenesis, systemic involvement and progression of LCH is still unclear.
【作者单位】： 中山大学孙逸仙纪念医院儿科血液专科;
【基金】：广东省科技计划项目(编号:2017A020215126)
【分类号】：R725.9
，
本文编号：2418147
[Abstract]:Objective to investigate the expression and clinical significance of BRAF-V600E mutation in children with Langerhans cell histiocytosis (LCH). Methods from August 2009 to June 2015, 27 children (17 males and 10 females) with LCH were diagnosed. The pathological biopsy specimens were embedded in paraffin and the BRAF-V600E mutation was detected by PCR method. The relationship between the mutation and the clinical characteristics and prognosis of the children was analyzed. Results there was no significant difference in age, sex, systemic involvement, 6-week reaction rate, 3-year overall survival rate and 3-year disease-free survival rate between the positive group and the negative group (33.3%). Conclusion the existence of BRAF-V600E mutation in LCH in children suggests that LCH in children may be a tumor disease, and the role of BRAF-V600E mutation in the pathogenesis, systemic involvement and progression of LCH is still unclear.
【作者单位】： 中山大学孙逸仙纪念医院儿科血液专科;
【基金】：广东省科技计划项目(编号:2017A020215126)
【分类号】：R725.9
，
本文编号：2418147
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