一名急性早幼粒细胞白血病（M3）患者2号染色体上存在PML/RARA嵌合基因，伴有新的变异易位：t(2;15;17)(q21;q22;q21) 。
A PML/RARA chimeric gene on chromosome 2 in a patient with acute promyelocytic leukemia (M3) associated with a new variant translocation: t(2;15;17)(q21;q22;q21).
作者信息
Fujishima M, Takahashi N, Miura I, Kobayashi Y, Kume M, Nishinari T, Miura A B
机构信息
Third Department of Internal Medicine, Akita, Japan.
出版信息
Cancer Genet Cytogenet. 2000 Jul 1;120(1):80-2. doi: 10.1016/s0165-4608(99)00238-1.
We describe a patient with acute promyelocytic leukemia (APL) carrying a new complex variant translocation of t(2;15;17)(q21;q22;q21). The karyotypic interpretation was confirmed by fluorescence in situ hybridization (FISH) with the use of painting probes of chromosomes 2, 15, and 17 and a PML/RARA dual color DNA probe. FISH showed a PML/RARA fusion gene on the der(2) instead of the der(15). These results suggest that the critical event in the development of APL is the formation of a PML/RARA chimeric gene, regardless of its locus in the genome.
我们描述了一名患有急性早幼粒细胞白血病（APL）的患者，其携带一种新的复杂变异易位t(2;15;17)(q21;q22;q21)。通过使用2号、15号和17号染色体的涂染探针以及PML/RARA双色DNA探针进行荧光原位杂交（FISH），证实了核型解释。FISH显示在der(2)上而非der(15)上存在PML/RARA融合基因。这些结果表明，APL发生发展中的关键事件是PML/RARA嵌合基因的形成，而不论其在基因组中的位置如何。
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