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<p>Over 90% of patients with acute promyelocytic leukemia (APL) harbor the typical translocation characterized by the dual fusion of <i>PML::RARA</i> and <i>RARA::PML</i> transcripts. Here, we report a case with a single fusion of <i>PML::RARA</i> formed on der(17), without the <i>RARA::PML</i> 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 <i>PML::RARA</i> fusion is the primary driver of APL leukemogenesis and the main therapeutic target for ATRA and ATO, suggesting that the <i>RARA::PML</i> transcript may not be essential for APL development.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月30日

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  • Ping Yang,
  • Daniel Cassidy,
  • Catalina Amador,
  • Sangeetha Venugopal

摘要

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.