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Genomic profiling of AML and MDS yields prognostic clues

Key clinical point: Genomic and gene-expression profiling identified disease subgroups with clinical significance.

Major finding: Detection of NPM1 mutations in combinations with other mutations in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) identified genomic profiles with prognostic value.

Study details: Genome and transcriptome sequencing of blood and marrow samples from 598 adults with AML and 706 adults with MDS.

Disclosures: The study was supported by St. Jude Children’s Research Hospital and the Leukemia and Lymphoma Society. Dr. Iacobucci and Dr. Wei reported having no relevant disclosures.


Iacobucci I et al. ASH 2019, Abstract LBA-4.