Molecular monitoring of the myl/retinoic acid receptor-alpha fusion gene in acute promyelocytic leukemia by polymerase chain reaction.
Molecular monitoring of the myl/retinoic acid receptor-alpha fusion gene in acute promyelocytic leukemia by polymerase chain reaction.
复制标题
通过聚合酶链反应对急性早幼粒细胞白血病中的 myl/视黄酸受体-α 融合基因进行分子监测。
作者：
A. Rambaldi;P. Pandolfi;Vincenzo Rossi;G. Giudici;Myriam Alcalay;F. Coco;D. Diverio;E. Pogliani;E. Lanzi;F. Mandelli;T. Barbui
急性早幼粒细胞白血病（APL）t（15;17）易位产生myl/视黄酸受体-α（RAR-α）嵌合基因，其转录为融合myl/RAR-α信使RNA。使用来自RAR-α和myl cDNA的引物组，我们能够通过反向聚合酶链反应（PCR）和两轮扩增的巢式引物方法扩增所有35个APL RNA样品的融合转录本的断点位点。根据15号染色体断裂点（内含子3-bcr 3、外显子6-bcr 2和内含子6-bcr 1）获得不同大小的DNA片段。bcr 1和bcr 3代表myl基因座在APL中最常累及的区域（分别为48.5和34.2例）; bcr 3占M3 V病例的62.5%，而M3病例的25.9%。本研究对5例接受不同治疗（化疗、全反式维甲酸或骨髓移植）的APL患者进行PCR分析，以监测APL克隆的可行性。在9例完全缓解患者的骨髓样本中，有5例可通过PCR分析检测到t（15;17）阳性细胞。我们的结论是，PCR扩增的myl/RAR-α连接的APL克隆的诊断和监测代表了最简单和快速的方法。
The acute promyelocytic leukemia (APL) t(15;17) translocation generates a myl/retinoic acid receptor-alpha (RAR-alpha) chimeric gene that is transcribed as a fusion myl/RAR-alpha messenger RNA. Using primer sets derived from RAR-alpha and myl cDNAs, we were able to amplify the breakpoint sites of the fusion transcripts of all 35 APL RNA samples by reverse polymerase chain reaction (PCR) and nested primer approach of two rounds of amplification. DNA fragments of different size were obtained according to the chromosome 15 breakpoints (intron 3-bcr 3; exon 6-bcr 2; and intron 6-bcr 1). bcr 1 and bcr 3 represent the regions of the myl locus most frequently involved among APL (48.5 and 34.2 of cases, respectively); bcr 3 constitutes 62.5% of cases among M3V as compared with 25.9% of M3 cases. The feasibility of monitoring the APL clone by PCR analysis in five APL patients who received different treatment (chemotherapy, all-trans-retinoic acid or bone marrow transplantation) was evaluated. In five of nine bone marrow samples of patients in complete remission, t(15;17)-positive cells could be detected by PCR analysis. We conclude that PCR amplification of the myl/RAR-alpha junctions represents the easiest and rapid method for diagnosis and monitoring of the APL clone.
DOI：
10.1073/pnas.79.24.7824
发表时间：
1982-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
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作者：
DALLAFAVERA, R;BREGNI, M;CROCE, CM
通讯作者：
CROCE, CM