Abd El-Ghany HM, El Ashry MS, Abdellateif MS, Rabea A, Sultan N, Abd El Dayem OY. Prevalence of RUNX1 gene alterations in de novo adult acute myeloid leukemia. World J Exp Med 2025; 15(1): 99516 [DOI: 10.5493/wjem.v15.i1.99516]
Corresponding Author of This Article
Mona S Abdellateif, MD, PhD, Professor, Department of Cancer Biology, National Cancer Institute, Cairo University, 1 Fom Elkhaligue, Cairo 11976, Al Qāhirah, Egypt. mona.sayed@nci.cu.edu.eg
Research Domain of This Article
Oncology
Article-Type of This Article
Retrospective Cohort Study
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Exp Med. Mar 20, 2025; 15(1): 99516 Published online Mar 20, 2025. doi: 10.5493/wjem.v15.i1.99516
Prevalence of RUNX1 gene alterations in de novo adult acute myeloid leukemia
Hoda M Abd El-Ghany, Mona S El Ashry, Mona S Abdellateif, Ahmed Rabea, Nada Sultan, Omnia Y Abd El Dayem
Hoda M Abd El-Ghany, Omnia Y Abd El Dayem, Department of Clinical Pathology, Faculty of Medicine, Cairo University, Cairo 11976, Al Qāhirah, Egypt
Mona S El Ashry, Nada Sultan, Department of Clinical Pathology, National Cancer Institute, Cairo University, Cairo 11976, Al Qāhirah, Egypt
Mona S Abdellateif, Department of Cancer Biology, National Cancer Institute, Cairo University, Cairo 11976, Al Qāhirah, Egypt
Ahmed Rabea, Department of Medical Oncology, National Cancer Institute, Cairo University, Cairo 11976, Al Qāhirah, Egypt
Author contributions: Abd El-Ghany HM and Abd El Dayem OY supervised the work and revised the paper; Rabea A managed and performed a follow-up of the patients; Abdellateif MS shared in the molecular work and analyzed the data; Sultan N performed the cytogenetics work and collected the data; El Ashry MS supervised the cytogenetic work and wrote the manuscript.
Institutional review board statement: The study was conducted following the Helsinki Declaration of 2011 and was approved by the internal review board of the National Cancer Institute and the Faculty of Medicine Research Ethics Committee at Cairo University (Code: MS-38-2020).
Informed consent statement: Every patient gave written informed consent.
Conflict-of-interest statement: The authors declare no competing interests.
Data sharing statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Mona S Abdellateif, MD, PhD, Professor, Department of Cancer Biology, National Cancer Institute, Cairo University, 1 Fom Elkhaligue, Cairo 11976, Al Qāhirah, Egypt. mona.sayed@nci.cu.edu.eg
Received: July 24, 2024 Revised: September 17, 2024 Accepted: October 22, 2024 Published online: March 20, 2025 Processing time: 154 Days and 17.9 Hours
Abstract
BACKGROUND
Acute myeloid leukemia (AML) is a complicated disease with uncontrolled hematopoietic precursor proliferation induced by various genetic alterations. Runt-related transcription factor-1 (RUNX1) is commonly disrupted by chromosomal translocations in hematological malignancies.
AIM
To characterize RUNX1 gene rearrangements and copy number variations in newly diagnosed adult AML patients, with an emphasis on the impact of clinical and laboratory features on the outcome.
METHODS
Fluorescence in situ hybridization was used to test RUNX1 gene alterations in 77 newly diagnosed adult AML cases. NPM1, FLT3/ITD, FLT3/TKD, and KIT mutations were tested by PCR. Prognostic clinical and laboratory findings were studied in relation to RUNX1 alterations.
RESULTS
RUNX1 abnormalities were detected by fluorescence in situ hybridization in 41.6% of patients: 20.8% had translocations, 22.1% had amplification, and 5.2% had deletion. Translocations prevailed in AML-M2 (P = 0.019) with a positive expression of myeloperoxidase (P = 0.031), whereas deletions dominated in M4 and M5 subtypes (P = 0.008) with a positive association with CD64 expression (P = 0.05). The modal chromosomal number was higher in cases having amplifications (P = 0.007) and lower in those with deletions (P = 0.008). RUNX1 abnormalities were associated with complex karyotypes (P < 0.001) and were mutually exclusive of NPM1 mutations. After 44 months of follow-up, RUNX1 abnormalities affected neither patients’ response to treatment nor overall survival.
CONCLUSION
RUNX1 abnormalities were mutually exclusive of NPM1 mutations. RUNX1 abnormalities affected neither patients’ response to treatment nor overall survival.
Core Tip: In the current study, we characterized the runt-related transcription factor-1 (RUNX1) gene rearrangements and copy number variations in patients with newly diagnosed adult acute myeloid leukemia with an emphasis on the impact of clinical and laboratory features on the outcome. RUNX1 abnormalities were mutually exclusive of NPM1 mutations. RUNX1 abnormalities affected neither patients’ response to treatment nor overall survival.
