伴有t(12;21)易位的儿童急性淋巴细胞白血病的临床和实验研究  

Clinical and experimental study of childhood acute lymphoblastic leukemia with t(12;21) translocation

作　　者：周剑彪[1] 何军[1] 薛永权[2] 彭惠兰[1] 王玮[2] 何亚香[1] 柴忆欢[1] 

机构地区：[1]苏州医学院附属儿童医院血液科,215003 [2]苏州医学院第一附属医院,江苏省血液研究所

出　　处：《中华儿科杂志》2000年第12期725-728,共4页Chinese Journal of Pediatrics

摘　　要：目的　研究我国儿童急性淋巴细胞白血病 (ALL)中伴有t(12 ;2 1)易位者的发生率及其临床、免疫学和预后的特征。方法　采用套式逆转录聚合酶链反应 (RT PCR)技术检测TEL AML1融合基因转录本 ,联合染色体R带核型分析和流式细胞仪免疫表型分析等方法。结果　在 5 5例儿童ALL(B系ALL 40例 ,T系ALL 13例 ,T、B系双表达ALL 2例 )中共发现 8例 (2 0 % )B系ALL有TEL AML1融合基因转录本 ,证实有t(12 ;2 1)易位存在。治疗后 8例均获完全缓解 (CR) ,随访至 1999年 5月 ,均在CR中 ,无一例复发。结论　t(12 ;2 1)B系ALL是儿童ALL中最多见且预后较好的一种亚型。RT PCR检测TEL AML1融合基因转录本是诊断t(12 ;2 1)ALL和监测其微小残留病最敏感有效的方法。Objective Recently t(12;21) translocation was recognized as the most frequent aberration in childhood acute lymphoblastic leukemia (ALL) because of the application of molecular biology technology. While there are few papers regarding this phenomenon within China. Fifty-five consecutive childhood ALL patients were studied in order to investigate the incidence of childhood ALL with t(12;21) translocation in our country, and to explore the clinical, immunological and prognostic features. Methods Fifty-five childhood ALL patients (B-lineage 40 cases, T-lineage 13 cases, T and B-lineage double expressions 2 cases) were collected from our hospital during the period from August 1997 to March 1999. Among them, 33 were males and 22 were females with the age of 1-14 years old (average 4). The VDLD (VCR, DNR, L-ASP and DEX) and the CAT (CTX, Ara-c and 6-TG) regimens were given for an induction and a consolidation therapy, respectively. Intrathecal MTX, Ara-c and DEX were used as the prophylactic therapy of the central nervous system disease. The nested RT-PCR was performed to detect TEL-AML 1 fusion transcript. In addition, the R-banding technique for analyzing chromosome karyotype and flow cytometry assay for cell surface immunophenotyping were also applied in this study. Results TEL-AML 1 fusion gene transcript was detected in 8 out of 55 childhood ALL patients. But the karyotype analysis obviated the t(12;21) translocation except one patient having a small clone of 46, XY,-10,+19 and another patient lacking metaphases. The 8 patients were all identified as B-lineage ALL, which included 1 case with early pre-B phenotype, 2 cases common, and 5 cases with per-B. The incidence of t(12;21) in B-cell ALL in this series was 20% (8/40). After induction therapy, all of them achieved complete remission (CR), and continued until May 1999. At the end of the follow-up duration, there was only one patient with the longest duration of CR, that is fifteen months. Negative RT-PCR results were revealed in 8 patients at the ti

关 键 词：儿童 急性淋巴细胞白血症 t(12 12)易位 遗传学 

分 类 号：R733.7[医药卫生—肿瘤]