Pike-Overzet K, de Ridder D, Weerkamp F, Baert M R M, Verstegen M M A, Brugman M H, Howe S J, Reinders M J T, Thrasher A J, Wagemaker G, van Dongen J J M, Staal F J T
Department of Immunology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Leukemia. 2007 Apr;21(4):754-63. doi: 10.1038/sj.leu.2404563. Epub 2007 Feb 1.
The occurrence of leukemia in a gene therapy trial for SCID-X1 has highlighted insertional mutagenesis as an adverse effect. Although retroviral integration near the T-cell acute lymphoblastic leukemia (T-ALL) oncogene LIM-only protein 2 (LMO2) appears to be a common event, it is unclear why LMO2 was preferentially targeted. We show that of classical T-ALL oncogenes, LMO2 is most highly transcribed in CD34+ progenitor cells. Upon stimulation with growth factors typically used in gene therapy protocols transcription of LMO2, LYL1, TAL1 and TAN1 is most prominent. Therefore, these oncogenes may be susceptible to viral integration. The interleukin-2 receptor gamma chain (IL2Rgamma), which is mutated in SCID-X1, has been proposed as a cooperating oncogene to LMO2. However, we found that overexpressing IL2Rgamma had no effect on T-cell development. In contrast, retroviral overexpression of LMO2 in CD34+ cells caused severe abnormalities in T-cell development, but B-cell and myeloid development remained unaffected. Our data help explain why LMO2 was preferentially targeted over many of the other known T-ALL oncogenes. Furthermore, during T-cell development retrovirus-mediated expression of IL2Rgamma may not be directly oncogenic. Instead, restoration of normal IL7-receptor signaling may allow progression of T-cell development to stages where ectopic LMO2 expression causes aberrant thymocyte growth.
在一项针对重症联合免疫缺陷病X1型(SCID-X1)的基因治疗试验中白血病的发生,凸显了插入诱变作为一种不良反应。尽管逆转录病毒整合到T细胞急性淋巴细胞白血病(T-ALL)致癌基因仅含LIM结构域蛋白2(LMO2)附近似乎是一个常见事件,但尚不清楚为何LMO2会被优先靶向。我们发现,在经典的T-ALL致癌基因中,LMO2在CD34+祖细胞中转录水平最高。在用基因治疗方案中常用的生长因子刺激后,LMO2、LYL1、TAL1和TAN1的转录最为显著。因此,这些致癌基因可能易受病毒整合影响。在SCID-X1中发生突变的白细胞介素-2受体γ链(IL2Rγ),已被提出作为与LMO2协同作用的致癌基因。然而,我们发现过表达IL2Rγ对T细胞发育没有影响。相反,在CD34+细胞中逆转录病毒过表达LMO2会导致T细胞发育出现严重异常,但B细胞和髓系发育不受影响。我们的数据有助于解释为何LMO2比许多其他已知的T-ALL致癌基因更易被优先靶向。此外,在T细胞发育过程中,逆转录病毒介导的IL2Rγ表达可能并非直接致癌。相反,正常IL7受体信号的恢复可能使T细胞发育进展到异位LMO2表达导致异常胸腺细胞生长的阶段。