核型看似正常的急性早幼粒细胞白血病：分子学发现及对全反式维甲酸的反应
Acute promyelocytic leukemia with apparently normal karyotype: molecular findings and response to all-trans retinoic acid.
作者信息
Kohno A, Tsuzuki S, Kasai M, Miyamura K, Emi N, Tanimoto M, Saito H
机构信息
First Department of Internal Medicine, Nagoya University School of Medicine, Nagoya, Japan.
出版信息
Leuk Lymphoma. 2001 Jun;42(1-2):151-61. doi: 10.3109/10428190109097687.
Acute promyelocytic leukemia (APL) is specifically associated with a reciprocal translocation, t(15; 17)(q22; q21), leading to the formation of a fusion of the retinoic acid receptor-alpha (RARA) gene and the promyelocytic leukemia (PML) gene. However, there are several reports describing APL cases lacking the t(15; 17). Many such cases are those bearing variant translocations involving chromosomes 15 or 17, and those with no chromosomal aberrations have rarely been reported. We have studied a patient with APL showing an apparently normal karyotype which was confirmed by spectral karyotyping (SKY). A submicroscopic PML-RARA fusion was identified by reverse transcriptase-polymerase chain reaction (RT-PCR) and fluorescent in situ hybridization (FISH). All-trans retinoic acid (ATRA) was effective as the initial therapy for remission induction and as the reinduction therapy after a relapse. The present study shows the key role of the fusion of PML-RARA in the responsiveness to ATRA as well as in the leukemogenesis of APL.
急性早幼粒细胞白血病（APL）与一种相互易位t(15; 17)(q22; q21) 特异性相关，该易位导致维甲酸受体α（RARA）基因与早幼粒细胞白血病（PML）基因融合。然而，有几篇报道描述了缺乏t(15; 17) 的APL病例。许多此类病例是那些带有涉及15号或17号染色体的变异易位的病例，而那些无染色体畸变的病例鲜有报道。我们研究了一名APL患者，其核型看似正常，经光谱核型分析（SKY）得以证实。通过逆转录聚合酶链反应（RT-PCR）和荧光原位杂交（FISH）鉴定出亚显微水平的PML-RARA融合。全反式维甲酸（ATRA）作为诱导缓解的初始治疗以及复发后的再诱导治疗均有效。本研究表明PML-RARA融合在对ATRA的反应性以及APL白血病发生过程中起关键作用。
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