Lahortiga Idoya, Belloni Elena, Vázquez Iria, Agirre Xabier, Larrayoz María J, Vizmanos Jose L, Valgañón Mikel, Zudaire Isabel, Sáez Borja, Mateos María C, Di Fiore Pier Paolo, Calasanz María J, Odero María D
Department of Genetics, School of Science, University of Navarra, C/ Irunlarrea s/n, 31008-Pamplona, Spain.
Cancer Genet Cytogenet. 2005 Mar;157(2):151-6. doi: 10.1016/j.cancergencyto.2004.08.001.
The t(7;11)(p15;p15.4) has been reported to fuse the NUP98 gene (11p15), a component of the nuclear pore complex, with the class-1 homeobox gene HOXA9 at 7p15. This translocation has been associated with myeloid leukemias, predominantly acute myeloid leukemia (AML) M2 subtype with trilineage myelodysplastic features, and with a poor prognosis. The derived fusion protein retains the FG repeat motif of NUP98 N-terminus and the homeodomain shared by the HOX genes, acting as an oncogenic transcription factor critical for leukemogenesis. We report here a new complex t(7;11)-variant, i.e., t(7;11;13;17)(p15;p15;p?;p1?2) in a patient with AML-M2 and poor prognosis. The NUP98-HOXA9 fusion transcript was detected by RT-PCR, suggesting its role in the malignant transformation as it has been postulated for other t(7;11)-associated leukemias. No other fusion transcripts involving the NUP98 or HOXA9 genes were present, although other mechanisms involving several genes on chromosomes 13 and 17 may also be involved. To our knowledge, this is the first t(7;11) variant involving NUP98 described in hematological malignancies.
据报道，t(7;11)(p15;p15.4)会使核孔复合体的一个组成部分NUP98基因（11p15）与7p15处的1类同源框基因HOXA9融合。这种易位与髓系白血病相关，主要是具有三系骨髓发育异常特征的急性髓系白血病（AML）M2亚型，且预后较差。衍生的融合蛋白保留了NUP98 N端的FG重复基序以及HOX基因共有的同源结构域，作为白血病发生关键的致癌转录因子发挥作用。我们在此报告一名AML-M2且预后较差患者中一种新的复杂t(7;11)变体，即t(7;11;13;17)(p15;p15;p?;p1?2)。通过逆转录聚合酶链反应（RT-PCR）检测到了NUP98-HOXA9融合转录本，提示其在恶性转化中的作用，正如其他与t(7;11)相关的白血病所推测的那样。尽管可能还涉及13号和17号染色体上几个基因的其他机制，但不存在涉及NUP98或HOXA9基因的其他融合转录本。据我们所知，这是血液系统恶性肿瘤中描述的首例涉及NUP98的t(7;11)变体。
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