Park H J, Lee K E, Um J M, Choe S Y, Chi X Z, Lee J A, Shin H Y, Ahn H S, Bae S C
Department of Pediatrics, Chungbuk National University College of Medicine, Cheongju, Korea.
Mol Cells. 2000 Feb 29;10(1):90-5. doi: 10.1007/s10059-000-0090-9.
The chromosomal translocation t(12;21) (p12;q22) which results in the TEL-AML1 fusion gene is the most frequent genetic rearrangement in childhood B-lineage acute lymphoblastic leukemia (ALL). The rearrangement in this locus, however, is only rarely observed by routine karyotypic analysis. We established a nested-reverse transcriptase-polymerase chain reaction (nested-RT-PCR) technique for the detection of the TEL-AML1 transcript, and used this to investigate the incidence of the rearrangement, and to characterize the disease present in TEL-AML1-positive B-lineage ALL patients. The TEL-AML1 fusion transcript was detected in nine of fourteen patients. These patients were relatively homogeneous in that they were young and had low presenting leukocyte counts, both features of which are associated with a favorable prognosis. Furthermore, we could detect the TEL-AML1 transcript in the peripheral blood of t(12;21)-positive patients and we used this to assess minimal residual disease (MRD) in patients during chemotherapy. The data demonstrate that nested-RT-PCR is a suitable tool for diagnosing t(12;21)-positive ALL, that these patients constitute a clinically distinct subgroup of ALL patients, and that the method could also be used to monitor MRD in these patients.
导致TEL-AML1融合基因的染色体易位t(12;21)(p12;q22)是儿童B系急性淋巴细胞白血病（ALL）中最常见的基因重排。然而，通过常规核型分析很少能观察到该位点的重排。我们建立了一种用于检测TEL-AML1转录本的巢式逆转录聚合酶链反应（nested-RT-PCR）技术，并用于研究重排的发生率，以及对TEL-AML1阳性B系ALL患者的疾病进行特征分析。在14例患者中的9例检测到了TEL-AML1融合转录本。这些患者相对较为一致，他们年龄小且就诊时白细胞计数低，这两个特征都与预后良好相关。此外，我们能够在t(12;21)阳性患者的外周血中检测到TEL-AML1转录本，并用于评估化疗期间患者的微小残留病（MRD）。数据表明，巢式RT-PCR是诊断t(12;21)阳性ALL的合适工具，这些患者构成了ALL患者中一个临床上独特的亚组，并且该方法也可用于监测这些患者的MRD。
