目的 通过对43种融合基因在儿童白血病中的结果分析,探讨融合基因阳性的儿童急性B淋巴细胞白血病(acute B-lymphoblastic leukemia,B-ALL)的免疫表型特征。方法 应用实时荧光探针PCR法对2016年10月—2018年12月在深圳市儿童医院就诊的初发或复发B-ALL患儿进行融合基因检测,采用多参数流式细胞术(flow cytometry,FCM)对B-ALL患者进行免疫表型检测。结果 120例B-ALL患儿融合基因筛选总阳性率为37.5%(45/127),包括TEL/AML1 27例、E2 A/PBX1 7例、BCR/ABL1 6例、MLL 4例、TLS/ERG 1例;不同年龄段白血病融合基因阳性率差异有统计学意义(P<0.01),性别分布差异无统计学意义(P>0.05)。各融合基因阳性组CD19阳性率为100%,TEL/AML1阳性表达患者普通-B-ALL表型占比最高(77.8%),干/祖细胞抗原CD34的阳性率为81.5%;E2 A/PBX1阳性表达患者以前-B-ALL表型为主,不表达已知的T系及髓系抗原;各融合基因阳性组及阴性组患儿髓系抗原阳性率比较差异有统计学意义(P<0.01),以BCR/ABL1基因表达组阳性率最高(100%)。结论 5种融合基因在患者年龄构成及免疫表型中具有一定的分布特点;B-ALL特征性免疫表型的改变可用于融合基因表达的预测,提高融合基因结果判读的准确率。

Objective To investigate the immunophenotype features of children with acute B-lymphoblastic leukemia(B-ALL) combined with fusion gene expressing after to analyze the results of the 43 fusion genes. Methods Real-time fluorescent probe PCR assay was used for the detection of fusion genes in 120 cases of children from Shenzhen Children's Hospital with B-ALL newly or recurrently diagnosed from Oct 2016 to Dec 2018. Multi-parameter flow cytometry(FCM) was used for the detection of the immunophenotype in children with B-ALL. Results Of all the 120 cases, the fusion genes were detected at positive rate of 37.5%(45/120), included TEL/AML1 27 cases, E2 A/PBX1 7 cases, BCR/ABL1 6 cases, MLL 4 cases, TLS/ERG 1 cases. The positive rate of leukemia fusion gene had statistically difference among fusion genes positive groups based on age(P<0.01). There was no statistically difference in the gender distribution(P>0.05). The expressing of CD19 was at positive rate of 100% in all of the groups. The rate of the common-B-ALL was the highest B-ALL subtype in the TEL/AML1 positive groups(77.8%). The stem /progenitor associated antigen CD34 was at positive rate of 81.5%. The pre-B-ALL was the main subtype in the E2 A/PBX1 group, which was no expression of the known T-ALL associated antigen MyAg antigen. There was statistically difference in the positive rate of MyAg expression among all of the groups(P<0.01), with the highest rate in the BCR/ABL1 group(100%). Conclusion There were certain distribution features in age composition and immunophenotype of children with B-ALL carrying five kinds of common fusion genes. The characteristic changes of the immunophenotype of B-ALL may be used to predict the expression of fusion genes and improve the accuracy of fusion genes by the supplementary role of immunophenotype analysis.

目的 探讨哮喘患者的气道炎症表型分布及肺功能指标情况。方法 选择226 例哮喘患者为研究对象,其中50 例为重症哮喘,76 例为普通哮喘,对比哮喘患者的气道炎症表型分布情况及患者肺功能指标情况。结果 226 例哮喘患者中,嗜酸性粒细胞型最为常见,占36.73%,之后为中性粒细胞型（31.86%）、混合细胞型（22.12%）、寡细胞型（9.29%）;重度哮喘患者中,中性粒细胞型患者肺功能相关指标均低于其它类型的重症患者（P<0.05）。结论 在哮喘气道炎症表型中,最常见的表型为嗜酸性粒细胞型,其中中性粒细胞型的哮喘患者的肺功能最差。

Objective To explore the phenotype distribution and lung function indicators of airway inflammation in asthmatic patients. Methods 226 cases of asthma patients were chosen as the research objects,in which 50 cases of severe asthma,76 cases of asthma,to compare asthma airway inflammation phenotype distribution and lung function index. Results Among 226 asthma patients,eosinophilic granulocytes were the most common,accounting for 36.73%,followed by neutrophilic granulocytes （31.86%）,mixed cell types （22.12%） and oligocytes （9.29%）. Among patients with severe asthma, the lung function of neutrophil patients was lower than that of other severe patients（P < 0.05）. Conclusion Among asthmatic airway inflammatory phenotypes, the most common phenotype is eosinophilic granulocyte type, among which neutrophil asthmatic patients have the worst lung function.