biostudies-literatureDuncavage EJNational Center for Advancing Translational SciencesNCATS NIH HHSAlvin J. Siteman Cancer CenterNational Cancer InstituteNCI NIH HHS924-935https://www.ebi.ac.uk/biostudies/studies/S-EPMC8130455biostudies-literatureUnknown384(10)<h4>Background</h4>Genomic 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.<h4>Methods</h4>We 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 byThe New England journal of medicineGenome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.PMC8130455R50 CA211782R33 CA217700UL1 TR002345P01 CA101937P01CA101937P30CA0918423UL1TR002345-02S119-FY19-01P50 CA171963P30 CA091842R33CA217700-01K08 CA190815K08CA190815R35 CA197561Link DCChristopher MJWilson RHughes AEOFulton RSDuncavage EJBaty JDDiPersio JFSpencer DHWalter MJMiller CAGarza JHeath SEKruchowski SHughes ELey TJMacMillan SRobinson JUy GLSchroeder MCBohannon AJacoby MADu FPayton JEWestervelt PO'Laughlin MNeidich JfalseGenome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.<h4>Background</h4>Genomic 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.<h4>Methods</h4>We 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 by2021-01-01T00:00:00Z2021 Mar2026-05-08T22:17:31.482Z2022-02-11T10:37:45.43ZS-EPMC81304553370493710.1056/NEJMoa202453410.1056/nejmoa2024534