Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.
Oncology, Nuclear Medicine and Transplantology, 1(2), 2025, onmt011, https://doi.org/10.63946/onmt/17527
Publication date: Dec 10, 2025
ABSTRACT
Minimal residual disease (MRD) has become a significant predictor of relapse and survival in acute myeloid leukemia (AML), indicating the extent of remission beyond traditional morphological evaluation. Although multicolor flow cytometry and quantitative PCR are essential methodologies in minimal residual disease identification, both are constrained by immunophenotypic variability, the necessity for stable molecular targets, and limited sensitivity. Advancements in next-generation sequencing (NGS) have revolutionized the minimal residual disease (MRD) field by enabling highly sensitive, mutation-driven identification of leukemic clones across a broad genomic landscape. Contemporary error-suppressed next-generation sequencing techniques—such as unique molecular identifiers, duplex sequencing, and single-molecule molecular inversion probes—have enhanced analytical sensitivity to the 10⁻⁵ to 10⁻⁶ range, enabling the detection of ultra-low-frequency variations with greater specificity. These techniques improve clinical risk classification, refine prognostication within genetically defined AML subtypes, and guide therapeutic options, including post-remission therapy, targeted inhibition, and the timing and intensity of allogeneic stem cell transplantation. Innovative applications, such as single-cell sequencing, cell-free DNA studies, and integrative multi-omic MRD evaluation, enhance the capabilities of genomics-based monitoring. Nonetheless, obstacles remain, such as differentiating cancer mutations from clonal hematopoiesis, standardizing analytical pipelines, establishing clinically relevant thresholds, and incorporating NGS MRD into standardized treatment protocols. This review encapsulates contemporary NGS methods for AML MRD diagnosis, assesses their clinical ramifications and constraints, and suggests future pathways necessary for comprehensive clinical integration. With advancements in the area, NGS-based MRD is set to become a pivotal element of precision-guided AML control.
KEYWORDS
Minimal Residual Disease (MRD) Acute Myeloid Leukemia (AML) Next-Generation Sequencing (NGS) Error-Suppressed Sequencing Clonal Hematopoiesis
CITATION (Vancouver)
Gab-Obinna CL, Oriaku I, Okechukwu O, Olowookere AK, Onyedum NN, Ojetunde PD, et al. Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.. Oncology, Nuclear Medicine and Transplantology. 2025;1(2):onmt011. https://doi.org/10.63946/onmt/17527
APA
Gab-Obinna, C. L., Oriaku, I., Okechukwu, O., Olowookere, A. K., Onyedum, N. N., Ojetunde , P. D., & Taylor, K. E. (2025). Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.. Oncology, Nuclear Medicine and Transplantology, 1(2), onmt011. https://doi.org/10.63946/onmt/17527
Harvard
Gab-Obinna, C. L., Oriaku, I., Okechukwu, O., Olowookere, A. K., Onyedum, N. N., Ojetunde , P. D., and Taylor, K. E. (2025). Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.. Oncology, Nuclear Medicine and Transplantology, 1(2), onmt011. https://doi.org/10.63946/onmt/17527
AMA
Gab-Obinna CL, Oriaku I, Okechukwu O, et al. Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.. Oncology, Nuclear Medicine and Transplantology. 2025;1(2), onmt011. https://doi.org/10.63946/onmt/17527
Chicago
Gab-Obinna, Chidinma Lorretta, Ikemefula Oriaku, Oluchi Okechukwu, Adepeju Kafayat Olowookere, Nwamaka Nneka Onyedum, Precious Deborah Ojetunde , and Kwesi Egyin Taylor. "Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.". Oncology, Nuclear Medicine and Transplantology 2025 1 no. 2 (2025): onmt011. https://doi.org/10.63946/onmt/17527
MLA
Gab-Obinna, Chidinma Lorretta et al. "Next-Generation Sequencing for Minimal Residual Disease Detection in AML: Current Technologies and Clinical Implications.". Oncology, Nuclear Medicine and Transplantology, vol. 1, no. 2, 2025, onmt011. https://doi.org/10.63946/onmt/17527
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