急性早幼粒细胞白血病中PML基因重排的分子异质性：发生率及临床意义
Molecular heterogeneity of the PML gene rearrangement in acute promyelocytic leukemia: prevalence and clinical significance.
作者信息
Fukutani H, Naoe T, Yoshida H, Yamamori S, Ohno R
机构信息
Department of Internal Medicine, Nagoya University Branch Hospital.
出版信息
Jpn J Cancer Res. 1993 Mar;84(3):257-64. doi: 10.1111/j.1349-7006.1993.tb02865.x.
We determined the breakpoints of the RAR-alpha and PML genes in acute promyelocytic leukemia (APL) cells from 40 patients using Southern blot analysis. We also analyzed the relationship between the location of breakpoints, the clinical features of APL and the response to all-trans retinoic acid (ATRA). While the breakpoints of the RAR-alpha gene were consistently within intron 2, we found two major clusters in the breakpoints of the PML gene. The two breakpoint clusters in the PML gene were separated by 10 kb; 5' breakpoints were in intron 3, and 3' breakpoints were around introns 5 and 6. Twenty percent of the patients had 5' breakpoints in the PML gene and 70% had 3' breakpoints. No rearrangement was observed in the remaining 10% of patients in spite of the presence of t(15;17) translocation. There was no relationship between the location of the PML breakpoints, the clinical features at diagnosis and the response to ATRA.
我们采用Southern印迹分析方法，确定了40例急性早幼粒细胞白血病（APL）患者细胞中RAR-α和PML基因的断点。我们还分析了断点位置、APL临床特征与全反式维甲酸（ATRA）反应之间的关系。虽然RAR-α基因的断点始终位于第2内含子内，但我们在PML基因的断点中发现了两个主要簇。PML基因中的两个断点簇相隔10 kb；5'断点位于第3内含子，3'断点位于第5和第6内含子附近。20%的患者PML基因有5'断点，70%有3'断点。尽管存在t(15;17)易位，但其余10%的患者未观察到重排。PML断点的位置、诊断时的临床特征与对ATRA的反应之间没有关系。
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