Asturian researchers are working together to complete the genomic map of chronic lymphocytic leukemia

Asturian researchers are working together to complete the genomic map of chronic lymphocytic leukemia


An international study published in “Nature Genetics” under the coordination of the IDIBAPS-Hospital Clínic, the University of Barcelona, ​​​​​​the University of Oviedo and the CIBERONC; Dana-Farber Cancer Institute, Broad Institute of MIT and Harvard University, Boston; and the University of Ulm in Germany, completes the map of genomic alterations in chronic lymphocytic leukemia.

The study, which analyzed the genomes of more than 1,100 tumors, identifies more than 100 novel genes implicated in the disease and defines new populations of patients with differential development that researchers can use to improve diagnosis and treatment strategies The University of Oviedo states in a press release that they can support the disease.

This tool will lead to a better understanding of the disease and potentially lead to more accurate prognosis for patients, improved diagnostics and the development of new treatments.

Chronic lymphocytic leukemia (CLL) is a type of blood cancer and is the most common type of leukemia in the western world, with an incidence of approximately 5 cases per 100,000 people per year. It is characterized by an increase in the number of B lymphocytes, a type of white blood cell that may happen to show up in routine blood tests.

The LLC can grow slowly and have a good prognosis, or it can be fast and aggressive. Knowing the molecular changes that cause this very different development could make it possible to know the prognosis at an early stage. Previous studies have provided fragments of a CLL map, each focused on specific types of patients or containing limited data.

“The aim of this study was to provide a virtually complete catalog of all genomic alterations that cause CLL and its molecular subtypes. It has been an immense effort by a large international team that has analyzed the genomes of more than 1,000 patients using new bioinformatics tools for more than 4 years,” says Elías Campo, co-lead author of the study, head of the Molecular Pathology of Lymphoid Neoplasms group at IDIBAPS and researchers at CIBERONC.


To create the CLL map, the researchers analyzed variations in genetic sequences, gene expression patterns and chemical modifications of DNA (genomic, transcriptomic and epigenomic data) from 1,148 patients.

The study identified 202 genes (109 of which are new) that, when mutated, can lead to the onset and progression of the disease. The characterization of the subtypes of this leukemia, which differ in their genomic properties and their clinical development, has also been perfected.

“Beyond genetic sequences, the expression patterns of certain genes have allowed us to subcategorize the disease, providing very valuable prognostic information,” explains Xose S. Puente, researcher at the University Institute of Oncology, University of Oviedo and CIBERONC and co-lead author of the study.

Patients’ clinical outcomes have been linked to the genomic, transcriptomic, and epigenomic features of their tumor, so integrating this data can predict the likelihood that a patient will have very sluggish disease for many years, experience remission after treatment, or die Possibility that your leukemia is more aggressive and requires new treatments.

The results of this study may have an important impact on clinical practice, as “the new map will allow us to compare the genomic characteristics of the new patients with data from patients with similar genetic profiles and to predict their evolution and response to treatments.” know,” explains Iñaki Martín-Subero, co-first author of the study, head of the Biomedical Epigenomics group at IDIBAPS and researcher at CIBERONC.


One of the goals of the study is that this information will be used by the scientific community to advance treatment of this disease. To this end, the map identified in this study has been transformed into an interactive web portal so that researchers from all over the world can use it as a resource for their research and increase their understanding of the causes and characteristics of the different CLL subtypes.

“The new map of CLL allows us to move towards precision medicine in this disease, as it can help us to more accurately tailor the prognosis and treatment of a new patient based on their particular molecular characteristics,” concludes Elias Campo.

The study was also led by Gad Getz of the MIT Broad Institute; Catherine Wu of the Dana-Farber Cancer Institute and Harvard Medical School; and Stephan Stilgenbauer from the University of Ulm in Germany.

The first co-authors of the study are Ferran Nadeu and Martí Duran-Ferrer from IDIBAPS and CIBERONC, Binyamin A. Knisbacher from the Broad Institute of MIT, Ziao Lin from Harvard; and Cynthia K. Hahn of the Dana-Farber Cancer Institute and the Broad Institute at MIT.

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