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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 mutation rate of BRAFV600E in children with Langerhans cell histiocytosis (LCH) and its correlation with clinical features. Methods A total of 49 LCH children with paraffin-embedded tissue samples and peripheral blood samples were retrospectively analyzed to detect the mutation of BRAFV600E gene. And use the relevant statistical methods to analyze and process the collected clinical data. Results The total positive detection rate using immunohistochemistry, first-generation sequencing and second-generation sequencing was 59.2% (29/49). Children with BRAFV600E gene mutation and age, gender, affected organs, prognosis and no correlation. The BRAFV600E positive rate was higher in patients with LCH than those with other factors in LCH patients with multiple system involvement, bone damage, high risk and recurrence. Conclusion The positive rate of BRAFV600E in Chinese children is not significantly different from that in other countries. BRAFV600E gene and age, gender, affected organs, prognosis and other non-related. However, BRAFV600E gene mutation and multiple system involvement in LCH patients, bone damage, high risk and recurrence and other factors have a greater correlation, has some clinical significance.