TEL-AML1融合基因阳性及阴性儿童急性淋巴细胞白血病的临床特征比较  

Comparative study on clinical features between TEL-AML1 positive and negative childhood acute lymphoblastic leukmia

作　　者：郭霞[1] 李强[1] 朱易萍[1] 周晨燕[1] 高举[1] 李熙鸿[1] 潘玲丽[1] 李丰益[1] 田新[1] 刘海婷[1] 

机构地区：[1]四川大学华西第二医院儿科,成都610041

出　　处：《中华医学遗传学杂志》2007年第5期560-563,共4页Chinese Journal of Medical Genetics

基　　金：四川省科技厅基金（02SY029.143）;四川省人事厅基金（4200314,06SXS-10）

摘　　要：目的探讨TEL-AMLl融合基因在儿童急性淋巴细胞白血病（acute lymphoblastic leukemia，ALL）中的发生率并比较儿童TEL-AMLl融合基因阳性及阴性ALL患儿的临床特点。方法对确诊的95例ALL患儿骨髓或外周血标本采用巢式逆转录．聚合酶链反应（reverse transeripdon—polymerase chain reaction，RT-PCR）方法行TEL-AMLl融合基因筛查，同时分析TEL-AMLl融合基因阳性及阴性ALL患儿临床、MIC分型及治疗反应特点。结果95例儿童ALL患儿中，TEL-AMLl融合基因阳性率21．05％（20／95）。TEL-AMLl融合基因阳性组ALL患儿初诊时肝脾肿大程度、外周血白细胞计数中位数（7．40×10^9／L，阴性组为18．70×10^9／L）及幼稚细胞绝对计数中位数（2．45×10^9／L，阴性组为11．66×10^9／L）、贫血程度[（61．45±13．46）g／L，阴性组为（75．89±23．11）g／L]、血清乳酸脱氢酶水平[（621．47±335．85）U／L，阴性组为（1566．64±1720．45）U／L]均显著低于TEL-AMLl融合基因阴性组AIJJ患儿（P分别为0．006，〈0．001，0．011，0．013，0．003和0．020），两组年龄、性别比例、血小板计数及初诊时骨髓幼稚淋巴细胞百分率的差异无统计学意义。TEL-AMLl融合基因阳性组ALL患儿免疫表型多为前体B细胞型，两组患儿CDl3、CD33和CD34的表达阳性率差异无统计学意义。参与治疗的12例TEL-AMLl阳性组患儿泼尼松敏感试验全部敏感（100％），而阴性组患儿泼尼松不敏感者为27．50％（11／40），两者敏感率差异差异有统计学意义（P=0．041），但两组患儿第15天骨髓完全缓解率差异无统计学意义。结论伴有TEL-AMLl融合基因表达的ALL患儿初诊时体内肿瘤负荷显著低于阴性组患儿，其泼尼松敏感试验敏感率显著高于阴性组患儿，这些临床特征是小儿TEL-AMLl融合基因阳性ALL治疗效果好、预后佳的重要因素。Objective To determine the incidence of TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia （ALL） and to compare the clinical features between TEL-AML1 positive and negative patients. Methaods Samples of bone marrow or peripheral blood were collected from 95 newly diagnosed ALL children and the TEL-AML1 fusion gene was detected using nested reverse transcription-pelymerase chain reaction （RT-PCR）. The ALL patients were stratified into TEL-AML1 positive and negative groups and the clinical features were compared. Results Among 95 patients, 20 （21.05%） were TEL-AML1 positive. The median age of TEL-AML1 positive patients was 5.9 years old and M/F ratio was 1.22 ： 1. There were significant differences between TEL-AML1 positive and negative patients in hep- atomegaly （2.75 cm vs. 4 cm below costal arch, P = 0.006）, splenomegaly （0 cm vs. 3 cm below costal arch, P 〈 0. 001）, initial white blood cell count （median 7.40 × 10^9/L vs. 18.70×10^9/L, P=0.011）, initial peripheral blood blast （median 2.45 × 10^9/L vs. 11.66 × 10^9/L, P = 0.013）, hemoglobin level [ （61.45 ± 13.46） g/L vs. （75.89 ± 23.11） g/L, P=0.003] and serum lactate dehydrogenase [（621.47± 335.85） U/L vs. （1566.64± 1720.45） U/L, P = 0.020], while no differences were found between two groups in age, gender ratio, initial platelet count, percentage of blast in bone marrow, immunophenotypes and the expression of myeloid antigen CD13, CD33 and CD34. The prednisone sensitivity test showed that all 12 TEL-AML1 positive patients were good respenders, while there were 11 prednisone poor respenders among 40 negative patients （27.50%, P 〈 0.05）. Bone marrow examination on day 15 showed no difference in the rate of complete remission between TEL-AML1 positive and negative patients. Conclitsion The incidence of TEL-AML1 fusion gene in cases of ALL is 21.05%. The load of leukemia cells in TEL-AML1 positive patients is significantly smaller than its counterparts, and the blast cells in TEL-AML1 posit

关 键 词：急性淋巴细胞白血病 TEL-AMLl融合基因 临床特征 

分 类 号：R686[医药卫生—骨科学]