109例B淋巴系统恶性肿瘤患儿融合基因和免疫表型分析

Analysis of Fusion Gene and Immunophenotype in 109 Children with B Cell-Malignancy

目的 回顾性分析109例B淋巴系统恶性肿瘤患儿检测结果,探讨其融合基因和免疫表型的关系。方法 应用实时荧光定量PCR进行融合基因检测,采用多参数流式细胞术进行免疫表型分析。结果 109例B淋巴系统恶性肿瘤患儿集中在1~10岁;融合基因阳性者42例,检出率为38.5%,其中TEL/AML1比例最高,占64.3%;免疫表型以表达CD34和CD10的Ⅱ型(common-B-ALL)为主,共81例,占74.3%,TEL/AML1和BCR/ABL阳性患者均属Ⅱ型;伴髓系抗原表达与疾病的预后无关,但不同类型融合基因的表达与疗效相关。结论 儿童急性B-ALL的发病年龄、融合基因以及免疫表型之间具有一定的相关性;特定免疫标志物的改变可用于发病初期融合基因表达的预测,特征性融合基因的鉴定也有利于更精准的诊疗。

Objective To investigate the relationship between fusion gene expression and immunological phenotype,we carried out retrospective analysis of data from 109 B cell-malignancy cases.Methods Real-time quantitative PCR assay was used for detection of fusion genes,and immunological phenotype was analyzed by multi-parameter flow cytometry.Results Of the 109 B-ALL cases,98 patients were 1~10 years old.A total of 42 cases(38.5%) were positive for fusion gene,among which TEL/AML1 is most frequent(64.3%);For immunophenotype,81 cases(74.3%) were type II common-B-ALL which is CD34;CD10;.Those with TEL/AML1 or BCR/ABL fusion gene were all of this type;Expression of myeloid antigen was not associated with prognosis of the disease.In contrast,different fusion gene expression was related to variable efficacy of clinical therapy.Conclusion Onset age,fusion gene and immunophenotype of acute B-ALL are related to each other.Changes of specific immune markers predict expression of fusion gene in early stage of the disease,and a characteristic fusion gene will benefit an accurate diagnosis and treatment.