e6-a2 BCR-ABL1 fusion in T-cell acute lymphoblastic leukemia
e6-a2 BCR-ABL1 fusion in T-cell acute lymphoblastic leukemia
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T 细胞急性淋巴细胞白血病中的 e6-a2 BCR-ABL1 融合
DOI：
10.1038/sj.leu.2403595
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发表时间：
2005
期刊：
影响因子：
11.4
通讯作者：
H. Drexler
中科院分区：
文献类型：
--
作者：
H. Quentmeier;J. Cools;R. MacLeod;P. Marynen;C. Uphoff;H. Drexler
费城染色体（Ph）是染色体易位t（9; 22）（q34; q11）的结果，导致BCR-ABL 1融合基因。Ph染色体是慢性粒细胞白血病（CML）的标志，但也在急性淋巴细胞白血病（ALL）中检测到，特别是在成人中。大多数Ph阳性ALL病例属于B细胞前体ALL，而Ph阳性T-ALL病例相当罕见。我们最近在大约5%的T-ALL病例和三个独立的TALL细胞系中发现了一种新的NUP 214-ABL 1融合基因，表明致癌ABL 1融合在T-ALL中复发。1在这里，我们报告了一个表达e6-a2 BCR-ABL 1融合转录本的T-ALL细胞系，迄今为止仅在5例CML病例中描述。2-6 MHH-TALL 1细胞系于1993年从一名患有T-ALL的11岁男孩的外周血中建立。7在最初诊断时，对原发肿瘤细胞的逆转录-聚合酶链反应（RT-PCR）分析未能揭示BCR-ABL 1融合的存在。然而，有趣的是，对细胞系进行的常规细胞遗传学和荧光原位杂交显示了影响Ph形成的三向t（1; 9; 22）（q32; q34; q11）重排（图1）。与患者一样，细胞系中各种常规BCR-ABL 1融合转录物的RT-PCR均为阴性。然而，我们发现一个PCR产物比e1-a2 BCR-ABL 1转录本大约600 bp，这是由BCR小断裂点簇区域的断裂引起的
The Philadelphia chromosome (Ph) is the result of the chromosomal translocation t (9; 22)(q34; q11), leading to the BCR-ABL1 fusion gene. The Ph chromosome is the hallmark of chronic myeloid leukemia (CML), but is also detected in acute lymphoblastic leukemia (ALL), particularly in adults. The majority of Ph-positive ALL cases belong to the category of B-cell precursor ALL, whereas Ph-positive T-ALL cases are rather rare. We recently identified a novel NUP214-ABL1 fusion gene in approximately 5% of T-ALL cases and in three independent TALL cell lines, indicating that oncogenic ABL1 fusions are recurrent in T-ALL. 1 Here, we report on a T-ALL cell line expressing the e6-a2 BCR-ABL1 fusion transcript described so far only in five cases of CML. 2–6 The MHH-TALL1 cell line was established from the peripheral blood of an 11-year old boy with T-ALL in 1993. 7 Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis of primary tumor cells at the time of the initial diagnosis failed to reveal the existence of a BCR-ABL1 fusion. Interestingly, however, conventional cytogenetics and fluorescence in situ hybridization performed on the cell line showed a three-way t (1; 9; 22)(q32; q34; q11) rearrangement effecting Ph formation (Figure 1). As with the patient, RT-PCR of the various conventional BCR-ABL1 fusion transcripts was negative in the cell line. However, we found a PCR product that was about 600bp larger than the e1-a2 BCR-ABL1 transcript caused by a break in the BCR minor breakpoint cluster region