Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

ABSTRACT: Mutations in the nucleophosmin 1 (NPM1) gene are considered founder mutations in the pathogenesis of acute myeloid leukemia (AML). To characterize the genetic composition of NPM1 mutated (NPM1^mut) AML, we assess mutation status of five recurrently mutated oncogenes in 129 paired NPM1^mut samples obtained at diagnosis and relapse. We find a substantial shift in the genetic pattern from diagnosis to relapse including NPM1^mut loss (n = 11). To better understand these NPM1^mut loss cases, we perform whole exome sequencing (WES) and RNA-Seq. At the time of relapse, NPM1^mut loss patients (pts) feature distinct mutational patterns that share almost no somatic mutation with the corresponding diagnosis sample and impact different signaling pathwa

SUBMITTER: Cocciardi S 

PROVIDER: S-EPMC6497712 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature