In chronic lymphocytic leukaemia with complex karyotype, major structural abnormalities identify a subset of patients with inferior outcome and distinct biological characteristics.
Gian Matteo RigolinElena SaccentiEmanuele GuardalbenMaurizio CavallariLuca FormigaroBarbara ZagattiAndrea VisentinFrancesca Romana MauroEnrico ListaCristian BassiLaura LupiniFrancesca Maria QuagliaAntonio UrsoMaria Antonella BardiLaura BonaldiEleonora VoltaElisa TammisoCaterina IlariLuciana CafforioAurora MelandriFrancesco CavazziniMassimo NegriniGianpietro SemenzatoLivio TrentinRobin FoàAntonio CuneoPublished in: British journal of haematology (2018)
Complex karyotype (CK) is a negative prognostic factor in chronic lymphocytic leukaemia (CLL). However, CK is a heterogeneous cytogenetic category. Unbalanced rearrangements were present in 73·3% of 90 CLL patients with CK (i.e. ≥3 chromosome aberrations in the same clone), and were associated with a shorter overall survival (P = 0·025) and a shorter time to first treatment (P = 0·043) by multivariate analysis. Patients with unbalanced rearrangements presented a distinct mRNA expression profile. In conclusion, CLL patients with unbalanced rearrangements might represent a subset of very high-risk CLL patients with distinct clinical and biological characteristics.