Clonal evolution, genomic drivers, and effects of therapy in chronic lymphocytic leukemia.

ABSTRACT:

Purpose

The identification of gene mutations and structural genomic aberrations that are critically involved in chronic lymphocytic leukemia (CLL) pathogenesis is still evolving. One may postulate that genomic driver lesions with effects on CLL cell proliferation, apoptosis thresholds, or chemotherapy resistance should increase in frequency over time when measured sequentially in a large CLL cohort.

Experimental design

We sequentially sampled a large well-characterized CLL cohort at a mean of 4 years between samplings and measured acquired copy number aberrations (aCNA) and LOH using single-nucleotide polymorphism (SNP) 6.0 array profiling and the mutational state of TP53, NOTCH1, and SF3B1 using Sanger sequencing. The paired analysis included 156 patients, of whom 114 remai

SUBMITTER: Ouillette P 

PROVIDER: S-EPMC3674194 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature