Blood Res.  2025;60:49. 10.1007/s44313-025-00096-0.

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

• Rinaldi I
• Arwanih E
• Winston K
• Adibah F
• Shufiyani Y
• Salma R

• KMID: 2571438
• DOI: http://doi.org/10.1007/s44313-025-00096-0

Abstract

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.

Keyword

AML; RUNX1 mutation analysis; Hyperleukocytosis; Prognosis; Cohort study