Genetic Abnormalities in Acute Myeloid Leukemia: Insights into Acute Myeloid Leukemia, Myelodysplasia-Related
Year: 2026
Type: article
Study design: Observational Study
Abstract: Background: Acute myeloid leukemia (AML) is a hematologic malignancy characterized by the clonal proliferation of undifferentiated myeloid precursors.The advent of next-generation sequencing (NGS) has enabled the identification of diverse genetic alterations.We employed NGS to assess the genetic profiles of Korean patients with AML.Methods: We retrospectively analyzed 71 adult patients who were diagnosed with AML by bone marrow examination and underwent genetic studies, including NGS, at Hallym University Sacred Heart Hospital between February 2021 and March 2025.AML subtypes were classified based on the WHO Classification of Haematolymphoid Tumours (5th edition).Genetic abnormalities were compared across AML subtypes to assess distinctions between them.Results: Each patient harbored at least two genetic variants, with an average of 7.25 variants per patient.The most frequent variants were observed in DNMT3A (26.8%),FLT3 (26.8%), and NRAS (22.5%).Among the AML subtypes, AML, myelodysplasia-related (AML-MR) was the most common, accounting for 26 of 71 patients (36.6%).The average number of genetic variants per case was 7.92 in AML-MR and 6.89 in non-AML-MR, with no statistically significant difference (P =0.239).TP53 variants were significantly more frequent in AML-MR than in non-AML-MR (P <0.001). Conversely, FLT3 variants were more prevalent in non-AML-MR (P <0.001).Conclusions: In this study, we characterized the genetic profile of AML in a Korean cohort and identified distinct genetic differences between AML-MR and non-AML-MR.These findings emphasize the diagnostic value of detecting genetic abnormalities in AML and may provide insights into potential targeted therapy approaches.
Source: Laboratory Medicine Online
Institutions: Hallym University, Hallym University Sacred Heart Hospital
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7141172589
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