Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation.

ABSTRACT: The pathogenesis of chronic lymphocytic leukemia (CLL), the most common leukemia in adults, is still largely unknown. The full spectrum of genetic lesions that are present in the CLL genome, and therefore the number and identity of dysregulated cellular pathways, have not been identified. By combining next-generation sequencing and copy number analysis, we show here that the typical CLL coding genome contains <20 clonally represented gene alterations/case, including predominantly nonsilent mutations, and fewer copy number aberrations. These analyses led to the discovery of several genes not previously known to be altered in CLL. Although most of these genes were affected at low frequency in an expanded CLL screening cohort, mutational activation of NOTCH1, observed in 8.3% of CLL at diagno

SUBMITTER: Fabbri G 

PROVIDER: S-EPMC3135373 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature