Abstract

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.

Highlights

  • 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

  • This observation relates the clinical differences between the IGHV-mutated and IGHV-unmutated CLL subtypes to the underlying genomic events

  • The results suggest widespread epigenomic reprogramming events during the development of this disease

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Summary

Introduction

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. A homozygous deletion at 13q14 which affects two micro-RNA genes (miR15-a and miR16-1) was suggested as a triggering event of CLL in about 50% of the patients [10,11]. With different types of input material and sample processing, these techniques can detect somatic point mutations and small insertion/deletions (whole-genome, whole-exome), chromosome rearrangements (wholegenome), expression and splicing variants (RNA-Seq) and changes in the epigenome (ChIP-Seq, bisulfite-based methods) [14,15].

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