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Whole-Genome Sequencing as an Alternative to Cytogenetics in AML, MDS

Whole-genome sequencing (WGS) could be an alternative to conventional cytogenetic analysis in patients with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS), according to a study published in the New England Journal of Medicine (N Engl J Med. 2021;384[10]:924-935).

Genomic analysis is essential for risk stratification in patients with AML or MDS,” said Eric J. Duncavage, MD, Department of Pathology and Immunology, McDonnell Genome Institute, and the Divisions of Oncology and Biostatistics, Department of Medicine, Washington University School of Medicine, St. Louis, and colleagues.

Dr Duncavage and colleagues obtained the genomic profiles of 263 patients with myeloid cancers, including 235 patients who had undergone cytogenetic analysis. Using WGS, they detected all 40 recurrent translocations and 91 copy-number alterations that the cytogenetic analysis identified. In 40 patients (17%, n = 235), new clinically reportable genomic events were found.

Prospective sequencing was performed on samples taken from 117 consecutive patients over a median of 5 days and provided new genetic information in 29 patients (24.8%), which in turn, changed the risk category for 19 patients (16.2%).

The researchers concluded that WGS provided rapid and accurate genomic profiling in patients with AML or MDS.—Emily Bader

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