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<p>A 62-year-old male presented with fatigue, dizziness, palpitations, and pancytopenia, subsequently diagnosed with myelodysplastic neoplasm (MDS) with increased blasts 2, alongside mutations in <i>DDX41</i> and <i>TP53</i> via a targeted 521-gene hematologic disorder panel. Treatment commenced with azacitidine and supportive care, leading to transient complete remission, and the two related mutations were eliminated. However, disease relapse occurred with the emergence of a novel <i>SETBP1</i> mutation, accompanied by two mutations detected at diagnosis. Despite adjustments in the treatment regimen, such as adding daratumumab, the patient’s disease progressed to secondary acute myeloid leukemia (sAML) with increased variant allele frequencies in three mutations. This indicated the novel <i>SETBP1</i> mutation might be associated with AML transformation. Ultimately, after discontinuing treatment, the patient passed away. This case indicates three co-mutations, including <i>SETBP1</i>, <i>DDX41</i> and <i>TP53</i>, may led to rapid disease progression, and underscores the challenges in managing MDS progressing to sAML, highlighting the prognostic value of genetic mutations detected through multiple genetic tests and the need for further treatment strategies.</p>

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Case report: Dynamic genetic profiles reveal a patient with myelodysplastic neoplasm transforming into acute myeloid leukemia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月27日

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  • Guiying Guo,
  • Huanchen Cheng,
  • Meng Sun,
  • Lixia Liu,
  • Jiayue Qin,
  • Yu Liu,
  • Tiejun Gong

摘要

A 62-year-old male presented with fatigue, dizziness, palpitations, and pancytopenia, subsequently diagnosed with myelodysplastic neoplasm (MDS) with increased blasts 2, alongside mutations in DDX41 and TP53 via a targeted 521-gene hematologic disorder panel. Treatment commenced with azacitidine and supportive care, leading to transient complete remission, and the two related mutations were eliminated. However, disease relapse occurred with the emergence of a novel SETBP1 mutation, accompanied by two mutations detected at diagnosis. Despite adjustments in the treatment regimen, such as adding daratumumab, the patient’s disease progressed to secondary acute myeloid leukemia (sAML) with increased variant allele frequencies in three mutations. This indicated the novel SETBP1 mutation might be associated with AML transformation. Ultimately, after discontinuing treatment, the patient passed away. This case indicates three co-mutations, including SETBP1, DDX41 and TP53, may led to rapid disease progression, and underscores the challenges in managing MDS progressing to sAML, highlighting the prognostic value of genetic mutations detected through multiple genetic tests and the need for further treatment strategies.