Burmeister Thomas, Gökbuget Nicola, Reinhardt Richard, Rieder Harald, Hoelzer Dieter, Schwartz Stefan
Charité Universitätsmedizin Berlin, Campus Benjamin Franklin, Medizinische Klinik III, Hindenburgdamm 30, 12200 Berlin, Germany.
Blood. 2006 Nov 15;108(10):3556-9. doi: 10.1182/blood-2006-04-014514. Epub 2006 Jul 27.
The NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia (T-ALL) has recently been identified as a possible target for imatinib and related tyrosine kinase inhibitors, but exact data regarding the prognostic impact and frequency of the several putative NUP214-ABL1 mRNA transcripts are still missing. We investigated 279 adult patients with T-ALL treated within the framework of the GMALL 5/93 and 6/99 therapy trials for NUP214-ABL1 by using a novel multiplex real-time, quantitative polymerase chain reaction (PCR). Eleven (3.9%) patients were NUP214-ABL1 positive, and 5 different transcripts were observed; 8 patients had a thymic immunophenotype, 1 had an early T-cell immunophenotype, and 2 had a mature T-cell immunophenotype. NUP214-ABL1-positive and -negative patients did not differ significantly in their major clinical features. In contrast to previous reports suggesting an adverse clinical course for NUP214-ABL1-positive patients, no significant difference in overall survival was observed. Based on the results, we have established and tested a novel PCR method for simplified detection of the NUP214-ABL1 fusion gene.
T细胞急性淋巴细胞白血病（T-ALL）中的NUP214-ABL1融合基因最近被确定为伊马替尼及相关酪氨酸激酶抑制剂的可能靶点，但关于几种假定的NUP214-ABL1 mRNA转录本的预后影响和频率的确切数据仍然缺失。我们通过使用一种新型多重实时定量聚合酶链反应（PCR），对在GMALL 5/93和6/99治疗试验框架内接受治疗的279例成年T-ALL患者进行了NUP214-ABL1检测。11例（3.9%）患者NUP214-ABL1呈阳性，观察到5种不同的转录本；8例患者具有胸腺免疫表型，1例具有早期T细胞免疫表型，2例具有成熟T细胞免疫表型。NUP214-ABL1阳性和阴性患者的主要临床特征无显著差异。与之前报道的NUP214-ABL1阳性患者临床病程不良相反，未观察到总生存期有显著差异。基于这些结果，我们建立并测试了一种用于简化检测NUP214-ABL1融合基因的新型PCR方法。
