ArticleThe New England journal of medicine2021
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
Open access · greenAbstract readComparative Study
In one paragraph
Article in The New England journal of medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 165 papers.
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165citing papers in PubMed
34.4field-weighted citation impact, top 1% of its field
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Who cites it
165 citing papers in PubMed, 288 citations in OpenAlex.
- SCRUM-Japan MONSTAR3 hematology cohort: a nationwide multi-omics integrated platform for next-generation precision medicine in hematologic malignancies.International journal of clinical oncology · 2026Article
- Evaluation of acute myeloid leukemia using genomic proximity mapping-based next generation cytogenomics.Haematologica · 2026Article
- Genetic and Clinical Features in TP53-Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on Next-Generation Sequencing Data.Cancer reports (Hoboken, N.J.) · 2026Article
- Application of next-generation sequencing in the treatment of myelodysplastic syndrome: from mechanisms to clinical practice.Blood science (Baltimore, Md.) · 2026Review
- The Evolving Role of Genomic Technologies in Multiple Myeloma: Implications for Diagnosis, Risk Stratification and Resistance.Molecular diagnosis & therapy · 2026Review
- Advances and Challenges in Fusion Gene Detection in Acute Leukemia.Annals of laboratory medicine · 2026Article
- Systematic evaluation of 24 extraction and library preparation combinations for metagenomic sequencing of SARS-CoV-2 in saliva.bioRxiv : the preprint server for biology · 2026Article
- Real-world clinical utility of tumor whole-genome sequencing in solid cancers.Nature medicine · 2026Article
- Advancing the Diagnosis of Non-Hodgkin Lymphoma Through Next-Generation Sequencing in Developing Countries: An Evaluation of Progress-A Narrative Review.Health science reports · 2026Article
- CILP Inhibits hyaline cartilage fibrosis and chondrocyte ferroptosis via keap1-Nrf2 axis in early osteoarthritis exercise therapy.Cellular and molecular life sciences : CMLS · 2026Article
- Genomic structural variations contribute to inform prognosis in patients with cytogenetically normal acute myeloid leukemia.Blood cancer journal · 2026Article
- The Diagnostic Evolution of Haematological Neoplasms: A Narrative Review of the Road to Two Genetically Focused Classification Systems Through a Resource-Limited Perspective.Diagnostics (Basel, Switzerland) · 2026Review
- Review
- Strategies for identifyingHaematologica · 2026Article
- Whole Genome Sequencing Informed Patient Personalized Measurable Residual Disease Assays for Acute Myeloid Leukemia.medRxiv : the preprint server for health sciences · 2026Article
- Ultra-Sensitive Mutation Detection Technology in Myeloid Neoplasms: New Tools for Patient Monitoring.Journal of clinical medicine · 2026Review
- Genetic landscape of pediatric acute myeloid leukemia in Taiwan.Scientific reports · 2026Article
- TP53-mutated myelodysplastic syndromes and acute myeloid leukemia: a comprehensive overview of targeted approaches.Frontiers in oncology · 2026Review
- Synergistic adverse prognosis ofFrontiers in cell and developmental biology · 2026Article
- Mapping the de-implementation of traditional diagnostic tests in pediatric acute lymphoblastic leukemia.Frontiers in oncology · 2026Article
105 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors at 2 institutions in 2 countries.
Eric J DuncavageFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.ORCID 0000-0002-5314-3043
Molly C SchroederFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Michele O'LaughlinFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Roxanne WilsonFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Sandra MacMillanFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Andrew BohannonFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Scott KruchowskiFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
John GarzaFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Feiyu DuFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Andrew E O HughesFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Josh RobinsonFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Emma HughesFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Sharon E HeathFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Jack D BatyFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Julie NeidichFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Matthew J ChristopherFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Meagan A JacobyFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Geoffrey L UyFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Robert S FultonFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Christopher A MillerFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Jacqueline E PaytonFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Daniel C LinkFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Matthew J WalterFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Peter WesterveltFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
John F DiPersioFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Timothy J LeyFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.ORCID 0000-0002-9913-0520
David H SpencerFrom the Department of Pathology and Immunology (E.J.D., M.C.S., A.E.O.H., J.N., J.E.P., D.H.S.), McDonnell Genome Institute (M.O., R.W., S.M., A.B., S.K., J.G., F.D., R.S.F., D.H.S.), and the Divisions of Oncology (J.R., E.H., S.E.H., M.J.C., M.A.J., G.L.U., C.A.M., D.C.L., M.J.W., P.W., J.F.D., T.J.L., D.H.S.) and Biostatistics (J.D.B.), Department of Medicine, Washington University School of Medicine, St. Louis.
Washington University in St. Louis · USResearch Institute of Radiology · BY
Funding
Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI TIMOTHY J. EBERLEIN · 2001 to 2026
$128.0MWU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8MSpecimen Acquistition and Expression ProfilingP01CA101937 · NCI · WASHINGTON UNIVERSITY · PI LEY, TIMOTHY J. · 2003 to 2023
$58.8MTargeting the Bone Marrow Microenvironment In Acute Lymphocytic LeukemiaP50CA171963 · NCI · WASHINGTON UNIVERSITY · PI TODD A FEHNIGER · 2013 to 2026
$31.6MMolecular Pathogenesis of Acute Myeloid LeukemiaR35CA197561 · NCI · WASHINGTON UNIVERSITY · PI Timothy J. Ley · 2015 to 2026
$11.0MCOMPREHENSIVE INFORMATIC ANALYSES OF AML GENOMES AND EPIGENOMESR50CA211782 · NCI · WASHINGTON UNIVERSITY · PI Christopher A Miller · 2017 to 2026
$1.5MTARGETED SINGLE-MOLECULE SEQUENCING ASSAY INCORPORATING MOLECULAR BARCODESR33CA217700 · NCI · WASHINGTON UNIVERSITY · PI DUNCAVAGE, ERIC J, WALTER, MATTHEW J · 2017 to 2019
$1.1MREGULATORY MECHANISMS OF HOX GENE EXPRESSION IN ACUTE MYELOID LEUKEMIAK08CA190815 · NCI · WASHINGTON UNIVERSITY · PI SPENCER, DAVID H · 2015 to 2019
$831kAlvin J. Siteman Cancer Center 19-FY19-01NCATS NIH HHS 3UL1TR002345-02S1NCATS NIH HHS UL1 TR002345NCI NIH HHS K08 CA190815NCI NIH HHS K08CA190815NCI NIH HHS P01 CA101937NCI NIH HHS P01CA101937NCI NIH HHS P30 CA091842NCI NIH HHS P30CA091842NCI NIH HHS P50 CA171963NCI NIH HHS R33 CA217700NCI NIH HHS R33CA217700-01NCI NIH HHS R35 CA197561NCI NIH HHS R50 CA211782
Abstract
backgroundGenomic analysis is essential for risk stratification in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS). Whole-genome sequencing is a potential replacement for conventional cytogenetic and sequencing approaches, but its accuracy, feasibility, and clinical utility have not been demonstrated.
methodsWe used a streamlined whole-genome sequencing approach to obtain genomic profiles for 263 patients with myeloid cancers, including 235 patients who had undergone successful cytogenetic analysis. We adapted sample preparation, sequencing, and analysis to detect mutations for risk stratification using existing European Leukemia Network (ELN) guidelines and to minimize turnaround time. We analyzed the performance of whole-genome sequencing by comparing our results with findings from cytogenetic analysis and targeted sequencing.
resultsWhole-genome sequencing detected all 40 recurrent translocations and 91 copy-number alterations that had been identified by cytogenetic analysis. In addition, we identified new clinically reportable genomic events in 40 of 235 patients (17.0%). Prospective sequencing of samples obtained from 117 consecutive patients was performed in a median of 5 days and provided new genetic information in 29 patients (24.8%), which changed the risk category for 19 patients (16.2%). Standard AML risk groups, as defined by sequencing results instead of cytogenetic analysis, correlated with clinical outcomes. Whole-genome sequencing was also used to stratify patients who had inconclusive results by cytogenetic analysis into risk groups in which clinical outcomes were measurably different.
conclusionsIn our study, we found that whole-genome sequencing provided rapid and accurate genomic profiling in patients with AML or MDS. Such sequencing also provided a greater diagnostic yield than conventional cytogenetic analysis and more efficient risk stratification on the basis of standard risk categories. (Funded by the Siteman Cancer Research Fund and others.).
Indexed as
Cytogenetic AnalysisWhole Genome SequencingFeasibility StudiesFemaleHumansLeukemia, Myeloid, AcuteMaleMiddle AgedMyelodysplastic SyndromesProportional Hazards ModelsSurvival Analysis
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