CECAD Microsite

The paper “Clonal dynamics towards the development of venetoclax resistance in chronic lymphocytic leukemia” with contributions from Anna Schmitt, Ron Jachimowicz and Roberta Castiglione is published.


Deciphering the evolution of cancer cells under therapeutic pressure is a crucial step to understand the mechanisms that lead to treatment resistance. To this end, we analysed whole-exome sequencing data of eight chronic lymphocytic leukemia (CLL) patients that developed resistance upon BCL2-inhibition by venetoclax. Here, Anna Schmitt, Ron Jachimowicz, Roberta Castiglione and colleagues report recurrent mutations in BTG1 (2 patients) and homozygous deletions affecting CDKN2A/B (3 patients) that developed during treatment, as well as a mutation in BRAF and a high-level focal amplification of CD274 (PD-L1) that might pinpoint molecular aberrations offering structures for further therapeutic interventions.