Identification of two atypical PML-RARα transcripts in two patients with acute promyelocytic leukemia
Identification of two atypical PML-RARα transcripts in two patients with acute promyelocytic leukemia
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DOI：
10.1016/s0145-2126(01)00158-8
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发表时间：
2002-05-01
影响因子：
2.7
通讯作者：
Sanz, MA
中科院分区：
文献类型：
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作者：
Barragán, E;Bolufer, P;Sanz, MA
我们发现了两例非典型pml - rar α重排患者，比典型的bcrl转录本长53和13个碱基对。序列分析显示，患者1在7a外显子末端有一个新的PML断点，患者2在6外显子末端有一个PML断点，rar α内含子2插入了35个核苷酸。患者1未表达RARalpha-PML，患者2显示RARalpha-PML转录本，符合典型的bcrl。这些结果强调了正确识别非典型pml - rar α重排的相关性，因为它在白血病发生、对治疗的反应以及对微小残留疾病的正确监测中具有潜在意义。(C) 2002 Elsevier Science Ltd.版权所有。
We identified two patients with atypical PML-RARalpha rearrangements, 53 and 13 base pairs longer than the typical bcrl transcript. Sequence analysis revealed a new PML breakpoint at the end of exon 7a in patient 1, and a PML exon 6 breakpoint in patient 2, with an insertion of 35 nucleotides of RARalpha intron 2. Patient I did not express RARalpha,-PML and patient 2 showed the RARalpha-PML transcript, which corresponded to the typical bcrl. These results emphasize on the relevance of the correct identification of atypical PML-RARalpha rearrangements because of the potential implications in leukemogenesis, in the response to treatment, and for the correct monitoring of minimal residual disease. (C) 2002 Elsevier Science Ltd. All rights reserved.