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Purpose <p>Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with varying prognostic outcomes. This study aimed to observe potential patterns or association between RUNX1 mutations and clinical features of AML patients, including hyperleukocytosis, thrombocytosis, and 12-month survival outcomes.</p> Methods <p>A prospective cohort study involving 38 patients diagnosed with de novo AML was conducted at the RSUPN Dr. Cipto Mangunkusumo and Dharmais Cancer Hospital between 2022 and 2023. Patients were followed up for 12&#xa0;months, and RUNX1 mutations within exons 4, 5, 7, and 8 were detected using polymerase chain reaction (PCR)-Sanger sequencing.</p> Results <p>This study found RUNX1 mutations in 18.4% of the patients, predominantly in exons 4 and 5. Significant differences in leukocyte counts were observed between patients with and without RUNX1 mutations (<i>p</i> = 0.004). However, no significant association was observed between RUNX1 mutations and hyperleukocytosis or thrombocytosis. Survival analysis revealed that Individuals with RUNX1 mutations had notably lower survival rates (hazard ratio = 6.024, <i>p</i> = 0.014, 95% CI = 1.436–25.279).</p> Conclusion <p>In conclusion, RUNX1 mutations may be associated with poor survival outcomes in Indonesian AML patients. Further studies involving larger cohorts and comprehensive molecular analyses are required to confirm the prognostic significance of these findings.</p>

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RUNX1 alterations and survival outcomes in AML: leukocyte dynamics and thrombocytosis insights from an Indonesian cohort

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年9月1日

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  • Ikhwan Rinaldi,
  • Elly Yanah Arwanih,
  • Kevin Winston,
  • Farida Farah Adibah,
  • Yuli Maulidiya Shufiyani,
  • Rafida Amalia Salma

摘要

Purpose

Acute myeloid leukemia (AML) is a heterogeneous hematologic malignancy with varying prognostic outcomes. This study aimed to observe potential patterns or association between RUNX1 mutations and clinical features of AML patients, including hyperleukocytosis, thrombocytosis, and 12-month survival outcomes.

Methods

A prospective cohort study involving 38 patients diagnosed with de novo AML was conducted at the RSUPN Dr. Cipto Mangunkusumo and Dharmais Cancer Hospital between 2022 and 2023. Patients were followed up for 12 months, and RUNX1 mutations within exons 4, 5, 7, and 8 were detected using polymerase chain reaction (PCR)-Sanger sequencing.

Results

This study found RUNX1 mutations in 18.4% of the patients, predominantly in exons 4 and 5. Significant differences in leukocyte counts were observed between patients with and without RUNX1 mutations (p = 0.004). However, no significant association was observed between RUNX1 mutations and hyperleukocytosis or thrombocytosis. Survival analysis revealed that Individuals with RUNX1 mutations had notably lower survival rates (hazard ratio = 6.024, p = 0.014, 95% CI = 1.436–25.279).

Conclusion

In conclusion, RUNX1 mutations may be associated with poor survival outcomes in Indonesian AML patients. Further studies involving larger cohorts and comprehensive molecular analyses are required to confirm the prognostic significance of these findings.