CLINICAL AND MOLECULAR CHARACTERIZATION OF A RARE SYNDROME OF ACUTE PROMYELOCYTIC LEUKEMIA ASSOCIATED WITH TRANSLOCATION (11-17)
CLINICAL AND MOLECULAR CHARACTERIZATION OF A RARE SYNDROME OF ACUTE PROMYELOCYTIC LEUKEMIA ASSOCIATED WITH TRANSLOCATION (11-17)
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DOI：
10.1182/blood.v85.4.1083.bloodjournal8541083
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发表时间：
1995-02-15
期刊：
影响因子：
20.3
通讯作者：
WAXMAN, S
中科院分区：
文献类型：
--
作者：
LICHT, JD;CHOMIENNE, C;WAXMAN, S
对一例急性早幼粒细胞白血病（APL）患者的变异易位t（11;17）进行分析，发现了一种新的锌指基因PLZF，该基因与维甲酸受体cy（RAR α）基因融合。我们回顾了另外5例t（11;17）相关APL患者的临床和分子特征。三名患者的临床过程的特点是早期死亡和三个经历了弥漫性血管内凝血。形态学上，所有患者都属于APL的不寻常形态谱，其特征介于M2和M3 AML之间。所有6名患者都具有PLZF-RAR α基因融合，如通过逆转录/聚合酶链反应测定、Southern印迹或脉冲场凝胶电泳检测到的，6例患者中有5例经全反式维甲酸（ATRA）初始化疗或分化治疗后未能达到完全缓解。第六例患者对初始化疗有反应，但复发时对ATRA无反应。当在体外测试时，来自三名患者的培养细胞未能对ATRA做出反应。与t（11;17）和PLZF与RAR α基因融合相关的APL是一种独立的临床病理综合征，其预后明显差于t（15;17）APL。(C)1995年，美国血液学会。
Analysis of a variant translocation t(11;17) in a case of acute promyelocytic leukemia (APL) led to discovery of a novel zinc finger gene, PLZF, fused to the retinoic acid receptor-cy (RAR alpha) gene. We reviewed the clinical and molecular features of five additional patients with t(11;17)-associated APL. The clinical course of three patients was characterized by early death and three experienced disseminated intravascular coagulation. Morphologically all of the patients fell in a unusual morphologic spectrum of APL, with features intermediate between M2 and M3 AML, All six patients had PLZF-RAR alpha gene fusion as detected by reverse transcription/polymerase chain reaction assay, Southern blotting, or pulsed-field gel electrophoresis, Five of the six patients failed to achieve complete remission after initial chemotherapy or differentiation therapy with all-trans retinoic acid (ATRA). A sixth patient responded to initial chemotherapy, but on relapse failed to respond to ATRA. When tested in vitro, cultured cells from three of the patients failed to differentiate in response to ATRA. APL associated with t(11;17) and fusion of the PLZF and RAR alpha genes is a discrete clinico-pathologic syndrome with a distinctly worse prognosis than t(15;17) APL. (C) 1995 by The American Society of Hematology.