Next-generation sequencing in chronic lymphocytic leukemia: recent findings and new horizons

Ana E. Rodríguez-Vicente, Vasilis Bikos, María Hernández-Sánchez, Jitka Malcikova, Jesús-María Hernández-Rivas _ and Sarka Pospisilova

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Oncotarget. 2017; 8:71234-71248. https://doi.org/10.18632/oncotarget.19525

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Ana E. Rodríguez-Vicente1,2,*, Vasilis Bikos3,*, María Hernández-Sánchez2, Jitka Malcikova3,4, Jesús-María Hernández-Rivas2,5,6,# and Sarka Pospisilova3,4,#

1Department of Molecular and Clinical Pharmacology, University of Liverpool, Liverpool, United Kingdom

2IBSAL, IBMCC, Centro de Investigación del Cáncer, Universidad de Salamanca, CSIC, Hospital Universitario de Salamanca, Salamanca, Spain

3Central European Institute of Technology, Masaryk University, Brno, Czech Republic

4Department of Internal Medicine – Hematology and Oncology, Medical Faculty MU and University Hospital, Brno, Czech Republic

5Hematology Department, Hospital Universitario, Salamanca, Spain

6Department of Medicine, Universidad de Salamanca, Salamanca, Spain

*These authors contributed equally to this work

#These authors share senior authorship

Correspondence to:

Jesús-María Hernández-Rivas, email: [email protected]

Keywords: chronic lymphocytic leukemia, next-generation sequencing, clonal evolution, immunogenetics, CLL prognosis

Received: May 17, 2017     Accepted: July 12, 2017     Published: July 24, 2017


The rapid progress in next-generation sequencing technologies has significantly contributed to our knowledge of the genetic events associated with the development, progression and treatment resistance of chronic lymphocytic leukemia patients. Together with the discovery of new driver mutations, next-generation sequencing has revealed an immense degree of both intra- and inter-tumor heterogeneity and enabled us to describe marked clonal evolution. Advances in immunogenetics may be implemented to detect minimal residual disease more sensitively and to track clonal B cell populations, their dynamics and molecular characteristics. The interpretation of these aspects is indispensable to thoroughly examine the genetic background of chronic lymphocytic leukemia. We review and discuss the recent results provided by the different next-generation sequencing techniques used in studying the chronic lymphocytic leukemia genome, as well as future perspectives in the methodologies and applications.

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