Redner R L
Department of Medicine, University of Pittsburgh, PA 15213, USA.
Leukemia. 2002 Oct;16(10):1927-32. doi: 10.1038/sj.leu.2402720.
The t(15;17)(q22;q21) translocation is tightly linked to the APL phenotype, and the resultant PML-RAR fusion can be demonstrated in 98% of APL cases. Rare variant translocations have been reported, the majority of which on detailed analysis represent cryptic PML-RAR fusions. However, a handful of APL cases have been described with different genotypes. These include the t(11;17)(q23;q21) that produces the PLZF-RAR fusion, t(5;17)(q35;q21) that forms NPM-RAR, t(11;17)(q13;q21) that generates NUMA-RAR, and der(17) that creates STAT5b-RAR. In this review we will discuss these variant translocations, and discuss the insights that we have gained from their study.
t(15;17)(q22;q21)易位与急性早幼粒细胞白血病（APL）表型紧密相关，在98%的APL病例中均可检测到由此产生的早幼粒细胞白血病-维甲酸受体α（PML-RAR）融合基因。已有罕见变异易位的报道，经详细分析，其中大多数代表隐匿性PML-RAR融合。然而，也有少数具有不同基因型的APL病例被描述。这些包括产生早幼粒细胞白血病锌指蛋白-维甲酸受体α（PLZF-RAR）融合基因的t(11;17)(q23;q21)、形成核仁磷酸蛋白-维甲酸受体α（NPM-RAR）的t(5;17)(q35;q21)、产生核有丝分裂装置蛋白-维甲酸受体α（NUMA-RAR）的t(11;17)(q13;q21)以及产生信号转导和转录激活因子5b-维甲酸受体α（STAT5b-RAR）的17号染色体衍生染色体（der(17)）。在本综述中，我们将讨论这些变异易位，并探讨我们从对它们的研究中获得的见解。
