儿童朗格汉斯细胞组织细胞增生症的BRAFV600E基因突变与临床相关性研究

Clinical relevance of BRAFV600E gene mutations in children with Langerhans cell hyperplasia

目的分析儿童朗格汉斯细胞组织增生症(langerhans cell histiocytosis,LCH)的BRAFV600E突变率及其与临床特征的相关性。方法对49例LCH患儿的石蜡包埋组织样本、外周血样本进行回顾性分析,检测其BRAFV600E基因突变结果。并使用相关统计学方法对收集的临床数据进行分析和处理。结果使用免疫组化、一代测序和二代测序检测技术的总阳性检出率为59.2%(29/49)。患儿BRAFV600E基因突变与发病年龄、性别、受累脏器、预后等无相关性。在存在多系统受累、骨骼损害、高危险度、复发等因素的LCH患者中,BRAFV600E阳性率较其他因素阴性者为高。结论中国儿童BRAFV600E阳性检出率与国外无明显人种及年龄差异。BRAFV600E基因与发病年龄、性别、受累脏器、预后等无相关性。但LCH患者中BRAFV600E基因突变和多系统受累、骨骼损害、高危险度及复发的等因素存在较大的相关性,具有一定的临床意义。

Objective To analyze the BRAFV600 E mutation rate and its correlation with clinical features of langerhans histiocytosis（cell） in children. Method 49 cases of paraffin embedded tissue samples and peripheral blood samples of LCH patient were analyzed by retrospective study, the BRAFV600 E gene mutation results was detected. And the relevant statistical methods were used to analyze and deal with the collected clinical data. Result After using approaches of immunohistochemistry, first generation sequencing, and second generation sequencing, the BRAFV600 E mutation rate in patients was 59.2%（29/49）. There was not any significant relationship between BRAFV600 E mutation with age, gender, organ involvement and prognosis. Compared with negative patients, the incidence rate of BRAFV600 E mutations in patients with multiple systems involvement, skeletal damage, high risk and relapse was higher. Conclusion The current study showed that BRAFV600 E mutation in China is in accord with the data from other countries. And demonstrated the rate of BRAFV600 E mutation is not influenced by factors such as ethnicity and age. There is not any significant relationship between BRAFV600 E mutation with age, gender, organ involvement and prognosis of patients. However, the detection of BRAF V600 E mutations were significantly related to multiple systems involvement, skeletal damage, high risk and relapse of LCH. The result may contain certain important clinical significance.