Rare single PML::RARA fusion transcript from insertion on derivative chromosome 17 in acute promyelocytic leukemia.

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY

Molecular Cytogenetics Pub Date : 2025-09-30 DOI:10.1186/s13039-025-00727-2

Ping Yang, Daniel Cassidy, Catalina Amador, Sangeetha Venugopal

引用次数: 0

Abstract

Over 90% of patients with acute promyelocytic leukemia (APL) harbor the typical translocation characterized by the dual fusion of PML::RARA and RARA::PML transcripts. Here, we report a case with a single fusion of PML::RARA formed on der(17), without the RARA::PML fusion, and the patient responded well to all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) therapy. To our knowledge, this represents only the fourth reported case of this type. Our findings indicate that the PML::RARA fusion is the primary driver of APL leukemogenesis and the main therapeutic target for ATRA and ATO, suggesting that the RARA::PML transcript may not be essential for APL development.

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急性早幼粒细胞白血病衍生染色体17上少见的单PML::RARA融合转录物。

超过90%的急性早幼粒细胞白血病（APL）患者存在典型的易位，其特征是PML::RARA和RARA::PML转录本双重融合。在这里，我们报告了一例在der（17）形成PML::RARA的单一融合，没有RARA::PML融合，患者对全反式维甲酸（ATRA）和三氧化二砷（ATO）治疗反应良好。据我们所知，这仅是报告的第4例此类病例。我们的研究结果表明，PML::RARA融合是APL白血病发生的主要驱动因素，也是ATRA和ATO的主要治疗靶点，这表明RARA::PML转录物可能不是APL发展所必需的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Cytogenetics GENETICS & HEREDITY-

CiteScore

2.60

自引率

7.70%

发文量

审稿时长

>12 weeks

期刊介绍： Molecular Cytogenetics encompasses all aspects of chromosome biology and the application of molecular cytogenetic techniques in all areas of biology and medicine, including structural and functional organization of the chromosome and nucleus, genome variation, expression and evolution, chromosome abnormalities and genomic variations in medical genetics and tumor genetics. Molecular Cytogenetics primarily defines a large set of the techniques that operate either with the entire genome or with specific targeted DNA sequences. Topical areas include, but are not limited to: -Structural and functional organization of chromosome and nucleus- Genome variation, expression and evolution- Animal and plant molecular cytogenetics and genomics- Chromosome abnormalities and genomic variations in clinical genetics- Applications in preimplantation, pre- and post-natal diagnosis- Applications in the central nervous system, cancer and haematology research- Previously unreported applications of molecular cytogenetic techniques- Development of new techniques or significant enhancements to established techniques. This journal is a source for numerous scientists all over the world, who wish to improve or introduce molecular cytogenetic techniques into their practice.