Anguita E, González F A, Contra T, Martín N, Valverde F, Villegas A
Servicio de Hematología y Hemoterapia, Hospital Universitario San Carlos de Madrid.
Sangre (Barc). 1998 Feb;43(1):7-11.
To demonstrate that a molecular screening by reverse transcriptase polymerase chain reaction (RT-PCR) of TEL/AML1, E2A/PBX1 and BCR/ABL genes in pediatric acute lymphoblastic leukaemia is a rapid method that allows one to exceed the percentage of adult patients with the BCR/ABL rearrangement.
12 Spanish children with acute lymphoblastic leukaemia were studied, 11 of them newly diagnosed and 1 relapsed. The patients were between 18 months and 10 years old. Bone marrow aspiration was collected between april and december 1996, RNA was isolated and cDNA was subjected to PCR amplification for TEL/AML1, E2A/PBX1 and BCR/ABL genes. Normal ABL and E2A genes were studied as amplification controls.
One of these hybrid genes was found in 33.3% of patients studied. TEL/AML1 in two cases (16.6%), E2A/PBX1 in one case (8.3%) and BCR/ABL in another one (8.3%).
On the basis of these data it would be useful to achieve a molecular screening of TEL/AML1, E2A/PBX1 and BCR/ABL genes in pediatric acute lymphoblastic leukaemia for allowing a molecular classification in a great percentage of patients that exceed the BCR/ABL positivity in adults.
证明通过逆转录聚合酶链反应(RT-PCR)对儿童急性淋巴细胞白血病中的TEL/AML1、E2A/PBX1和BCR/ABL基因进行分子筛查是一种快速方法,该方法能够使检出具有BCR/ABL重排的成年患者的比例得到提高。
对12名西班牙急性淋巴细胞白血病患儿进行了研究,其中11名是新诊断病例,1名是复发病例。患者年龄在18个月至10岁之间。于1996年4月至12月采集骨髓穿刺样本,分离RNA,并对TEL/AML1、E2A/PBX1和BCR/ABL基因的cDNA进行PCR扩增。研究正常ABL和E2A基因作为扩增对照。
在所研究的患者中,33.3%发现了其中一种融合基因。2例(16.6%)为TEL/AML1,1例(8.3%)为E2A/PBX1,另1例(8.3%)为BCR/ABL。
基于这些数据,对儿童急性淋巴细胞白血病中的TEL/AML1、E2A/PBX1和BCR/ABL基因进行分子筛查将有助于对很大比例的患者进行分子分类,这一比例超过了成年患者中BCR/ABL阳性的比例。