Open Access Review

The genomic landscape of chronic lymphocytic leukemia: clinical implications

Víctor Quesada1*, Andrew J Ramsay1, David Rodríguez1, Xose S Puente1, Elías Campo2 and Carlos López-Otín1

Author Affiliations

1 Departamento de Bioquímica y Biología Molecular, Universidad de Oviedo - IUOPA, Oviedo, Spain

2 Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, Barcelona, Spain

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BMC Medicine 2013, 11:124  doi:10.1186/1741-7015-11-124

Published: 9 May 2013


A precise understanding of the genomic and epigenomic features of chronic lymphocytic leukemia (CLL) may benefit the study of the disease’s staging and treatment. While recent reports have shed some light on these aspects, several challenges need to be addressed before translating this research into clinical practice. Thus, even the best candidate driver genes display low mutational rates compared to other tumors. This means that a large percentage of cases do not display clear tumor-driving point mutations, or show candidate driving point mutations with no obvious biochemical relationship to the more frequently mutated genes. This genomic landscape probably reflects either an unknown underlying biochemical mechanism playing a key role in CLL or multiple biochemical pathways independently driving the development of this tumor. The elucidation of either scenario will have important consequences on the clinical management of CLL. Herein, we review the recent advances in the definition of the genomic landscape of CLL and the ongoing research to characterize the underlying biochemical events that drive this disease.

Chronic lymphocytic leukemia; Genomics; Epigenomics; Driver mutations; Personalized medicine