Here we report an integrated genomic-metabolic study in AML that identified, based on intracellular and the biofluid metabolic profile, a specific NPM1-mut AML subgroup characterized by mutations of genes involved in DNA damage response and/or chromatid cohesion (NPM1/cohesin-mut) and high levels of serum choline + trimethylamine-N-oxide, and leucine. The gene discussed is NPM1; the disease is acute myeloid leukemia.