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August 14, 2023

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies

This study looks into the genetic landscape of 24,639 clinical myeloid samples assessed by the IntelliGEN® Myeloid Panel showing the utility of comprehensive genomic testing to guide clinical decisions. In recent years guidelines for myeloid diseases including acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and myeloproliferative neoplasms (MPN) have been updated to incorporate genomic mutation status in an increasing number of genes. We observed an average of 1.95 mutations per patient with 48.7% having mutations in genes used in diagnostic criteria while 61.6% of MDS patients had prognostic mutations. In total, we detected over 48,000 variants across the panel of 50 genes, shedding light on the intricate genetic tapestry of myeloid disease observed in real-world samples. This expansive retrospective study underscores the power of NGS testing in guiding clinical decisions within routine care and illuminates the mutational landscape within the myeloid patient community.