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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.
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http://dx.doi.org/10.1007/s44313-025-00096-0 | DOI Listing |
Front Oncol
August 2025
Department of Hematology, Institute of Molecular Hematology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
Background: To explore the potential association between long-term exposure to raw lacquer and the development of chronic myelomonocytic leukemia (CMML).
Methods: We analyzed the clinical and hematological characteristics of an elderly couple with CMML. Whole-exome sequencing (WES) was performed to identify relevant gene variants, with a focus on mutation status.
Establishing immune tolerance to gut microbiota and food antigens upon first exposures during early life is essential to prevent inflammatory bowel diseases and food allergy and depends on induction of peripherally induced Rorgt expressing regulatory T (Rorgt+ pTreg) cells. Recent studies have identified a critical role for Rorgt expressing antigen-presenting cells (APC), Thetis cells (TCs), in peripheral regulatory T (pTreg) cell differentiation and tolerance to food and commensal microbes. TCs encompass four distinct subsets, and a subset of TCs, TC IV induces pTreg differentiation, but the transcription factors that control their differentiation are not fully known.
View Article and Find Full Text PDFDev Biol
September 2025
Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address:
Thrombocytopenia-Absent Radius (TAR) syndrome is a rare congenital condition with reduced platelets, forelimb anomalies, and variable heart and kidney defects. TAR syndrome is caused by mutations in RBM8A/Y14, a component of the exon junction complex. How perturbing a general mRNA-processing factor causes the selective TAR Syndrome phenotypes remains unknown.
View Article and Find Full Text PDFBlood Res
September 2025
Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia.
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.
Cancers (Basel)
August 2025
Department of Medicine, Division of Hematology/Oncology, SUNY Upstate Medical University, 750 East Adams Street, Syracuse, NY 13210, USA.
This study investigates genomic alterations (GA) between NPM1-mutated (NPM1mut) and wild-type (NPM1wt) acute myeloid leukemia (AML), aiming to better understand the AML genomic profile. NPM1mut AML represents a distinct clinical AML subtype with high relapse rates despite initial responsiveness to chemotherapy. A total of 4206 AML cases from 2019 to 2024 were analyzed using the FoundationOne Heme assay, incorporating comprehensive DNA and RNA sequencing.
View Article and Find Full Text PDF