NUP214-ABL1 in adult T-ALL:: the GMALL study group experience
NUP214-ABL1 in adult T-ALL:: the GMALL study group experience
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DOI：
10.1182/blood-2006-04-014514
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发表时间：
2006-11-15
期刊：
影响因子：
20.3
通讯作者：
Schwartz, Stefan
中科院分区：
文献类型：
--
作者：
Burmeister, Thomas;Gokbuget, Nicola;Schwartz, Stefan
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和相关酪氨酸激酶抑制剂的可能靶点，但有关几种假定的 NUP214-ABL1 mRNA 转录物的预后影响和频率的确切数据仍然缺失。我们使用新型多重实时定量聚合酶链反应 (PCR) 调查了 279 名在 GMALL 5/93 和 6199 治疗试验框架内接受 NUP214-ABL1 治疗的成年 T-ALL 患者。 11 名（3.9%）患者 NUP214-ABL1 阳性，观察到 5 种不同的转录本； 8 名患者具有胸腺免疫表型，1 名患者具有早期 T 细胞免疫表型，2 名患者具有成熟 T 细胞免疫表型。 NUP214-ABL1 阳性和阴性患者的主要临床特征没有显着差异。与之前的报告表明 NUP214-ABL1 阳性患者出现不良临床过程相比，没有观察到总生存率的显着差异。基于这些结果，我们建立并测试了一种新的 PCR 方法，用于简化 NUP214-ABL1 融合基因的检测。
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 6199 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.