Mark J. Pettenati

TL;DR: In this paper, the prognostic impact of cytogenetic abnormalities on complete remission (CR) rate, 5-year cumulative incidence of relapse (CIR), and 5-to-5-year overall survival (OS) of acute myeloid leukemia (AML) patients was investigated.

TL;DR: These findings support the use of pretreatment cytogenetics in risk stratification of postremission AML therapy and demonstrate that the curative impact of cytarabine intensification varies significantly among cytogenetic groups and results in a substantial prolongation of CR among patients with CBF and normal karyotypes, but not in those with other karyotypic abnormalities.

TL;DR: The ELN classification clearly separates the genetic groups by outcome, supporting its use for risk stratification in clinical trials.

TL;DR: A high-resolution genetic map of DS phenotypes based on an analysis of 30 subjects carrying rare segmental trisomies of various regions of HSA21 is presented, demonstrating the value of combining advanced genomics with cohorts of rare patients for studying DS, a prototype for the role of copy-number variation in complex disease.

TL;DR: When the prognostic impact of race, secondary cytogenetic abnormalities, sex, and response to salvage treatment is considered, t(8;21) and inv(16) AMLs seem to be distinct clinical entities and should be stratified and reported separately.