Yamamoto K, Nakamura Y, Saito K, Furusawa S
Department of Haematology, Dokkyo University School of Medicine, Tochigi, Japan.
Br J Haematol. 2000 May;109(2):423-6. doi: 10.1046/j.1365-2141.2000.02003.x.
The t(7;11)(p15;p15) translocation is a recurrent aberration observed in acute myeloblastic leukaemia (AML) and chronic myelogenous leukaemia (CML). It has been shown that the NUP98 gene at 11p15 is fused with the HOXA9 gene at 7p15 in AML with t(7;11). We report the first case with CML expressing the NUP98/HOXA9 fusion transcript. A 27-year-old Japanese man was initially diagnosed as in the chronic phase of Philadelphia-positive CML. At the diagnosis of myeloid blast crisis, the karyotype evolved to 46, XY, t(7;11)(p15;p15), t(9;22)(q34;q11). Reverse transcriptase polymerase chain reaction identified the NUP98/HOXA9 transcript, suggesting that the NUP98/HOXA9 fusion protein could play a critical role in the progression to blast crisis.
t(7;11)(p15;p15)易位是在急性髓细胞白血病（AML）和慢性粒细胞白血病（CML）中观察到的一种常见畸变。研究表明，在伴有t(7;11)的AML中，位于11p15的NUP98基因与位于7p15的HOXA9基因融合。我们报告了首例表达NUP98/HOXA9融合转录本的CML病例。一名27岁的日本男性最初被诊断为费城染色体阳性CML的慢性期。在诊断为髓系原始细胞危象时，核型演变为46, XY, t(7;11)(p15;p15), t(9;22)(q34;q11)。逆转录聚合酶链反应鉴定出NUP98/HOXA9转录本，提示NUP98/HOXA9融合蛋白可能在进展为原始细胞危象中起关键作用。
