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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Genet. | doi: 10.3389/fgene.2019.00854

New recurrent structural aberrations in the genome of Chronic Lymphocytic Leukemia based on exome-sequencing data

 Adrián M. Orgueira1, 2*,  Beatriz A. Rodríguez1, 2, José Ángel D. Arias2, Marta Sonia G. Pérez2 and José Luis B. López1, 2
  • 1University of Santiago de Compostela, Spain
  • 2Complejo Hospitalario Universitario de Santiago, Spain

Chronic lymphocytic leukemia (CLL) is the most frequent lymphoproliferative syndrome in western countries and it is characterized by recurrent large genomic rearrangements. During the last decades, array techniques have expanded our knowledge about CLL’s karyotypic aberrations. The advent of large sequencing databases expanded our knowledge cancer genomics to an unprecedented resolution, and enable the detection of small scale structural aberrations in the cancer genome. In this study, we have performed exome-seq based CNA and LOH analysis in order to detect new recurrent structural aberrations. We describe 54 recurrent focal CNAs enriched in cancer-related pathways, and their association with gene expression and clinical evolution. Furthermore, we discovered recurrent large copy number neutral LOH events affecting key driver genes, and we recapitulate most of the large CNAs that characterize the CLL genome. These results provide “proof-of-concept” evidence supporting the existence of new genes involved in the pathogenesis of CLL.

Keywords: Copy number abberation, chronic lymphoblastic leukemia (CLL), Driver, Time to treatment, overall survival

Received: 15 Jan 2019; Accepted: 16 Aug 2019.

Copyright: © 2019 Orgueira, Rodríguez, Arias, Pérez and López. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Mr. Adrián M. Orgueira, University of Santiago de Compostela, Santiago de Compostela, 15782, Galicia, Spain,