Clonal evolution underlying leukemia progression and Richter transformation in patients with ibrutinib-relapsed CLL.

ABSTRACT: Ibrutinib has generated remarkable responses in patients with chronic lymphocytic leukemia (CLL), including those with an unfavorable cytogenetic profile. However, patients develop resistance, with poor outcomes and no established treatment options. Mutations in BTK and PLCG2 have emerged as main mechanisms of drug resistance, but not all patients carry these mutations. Further understanding of mechanisms of resistance is urgently needed and will support rational development of new therapeutic strategies. To that end, we characterized the genomic profiles of serial samples from 9 patients with ibrutinib-relapsed disease, including 6 who had Richter transformation. Mutations, indels, copy-number aberrations, and loss of heterozygosity were assessed using next-generation sequen

SUBMITTER: Kadri S 

PROVIDER: S-EPMC5728051 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature