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<p>Pathogenic/likely pathogenic (P/LP) germline variants in <i>RUNX1</i> cause familial platelet disorder with associated myeloid malignancies (FPDMM), also known as <i>RUNX1-</i>Familial Platelet Disorder (RUNX1-FPD, or FPD), a condition characterized by qualitative and quantitative platelet defects and predisposition to hematopoietic malignancies. Here, we present follow up to a case of a woman with acute myeloid leukemia and lifelong thrombocytopenia which had previously been attributed to presumptive pathogenic (P) <i>GATA2</i> missense variants. However, re-evaluation with updated molecular technology sensitive for detection of copy number variants (CNVs) led to the identification of a P deletion of exons 5-6 in <i>RUNX1</i>, which had been undetected when examined at first presentation. This case highlights the importance of comprehensive molecular evaluation and careful variant interpretation, especially regarding CNVs.</p>

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Germline copy number variants in RUNX1: An updated case report and a decade-old red herring

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月27日

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  • Natalie T. Deuitch,
  • Amra Kajdic,
  • Erica Bresciani,
  • Marshall S. Horwitz,
  • Hamish S. Scott,
  • Katie Craft,
  • Shawn Chong,
  • David J. Young,
  • Lucy A. Godley,
  • Paul P. Liu

摘要

Pathogenic/likely pathogenic (P/LP) germline variants in RUNX1 cause familial platelet disorder with associated myeloid malignancies (FPDMM), also known as RUNX1-Familial Platelet Disorder (RUNX1-FPD, or FPD), a condition characterized by qualitative and quantitative platelet defects and predisposition to hematopoietic malignancies. Here, we present follow up to a case of a woman with acute myeloid leukemia and lifelong thrombocytopenia which had previously been attributed to presumptive pathogenic (P) GATA2 missense variants. However, re-evaluation with updated molecular technology sensitive for detection of copy number variants (CNVs) led to the identification of a P deletion of exons 5-6 in RUNX1, which had been undetected when examined at first presentation. This case highlights the importance of comprehensive molecular evaluation and careful variant interpretation, especially regarding CNVs.