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An international study, of which the Aragonese scientist is the main co-author, identifies more than 100 new genes involved in the disease and defines new groups of patients with different evolution.
An international team of researchers has completed the map of genetic changes in chronic lymphocytic leukemia (CLL). This tool will provide a better understanding of the disease and can lead to more accurate prognoses for patients, improved diagnoses, and development of new treatments.
The work, published in the journal 'Nature Genetics', and is coordinated by researchers from IDIBAPS-Hospital Clínic and the University of Barcelona, the University of Oviedo, all of them from CIBERONC; Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard University, Boston; and Ulm University in Germany.
Chronic lymphatic leukemia (CLL) is a type of blood cancer and It is the most common type of leukemia in the Western world, with an incidence of around 5 cases per 100.000 inhabitants per year. It is characterized by an increase in the number of B lymphocytes, a type of white blood cell, which can be detected accidentally in a routine analysis.
“The objective of this study was to provide a practically complete catalog of all the genomic alterations that cause CLL and its molecular subtypes. It has been an immense effort from a large international team that has analyzed the genome of more than 1000 patients using new bioinformatics tools for more than 4 years,” he points out. the Aragonese Elías Campo (Boltaña, Huesca, 1955), main co-author of the study, head of the Molecular Pathology of Lymphoid Neoplasms group at IDIBAPS and researcher at CIBERONC.
More than a hundred new genes involved
To construct the CLL map, the researchers analyzed variations in genetic sequences, gene expression patterns, and chemical modifications of DNA (genomic, transcriptomic, and epigenomic data). of 1.148 patients.
In the study, 202 genes have been identified (109 of which were new) that, when mutated, they can lead to the onset and progression of the disease. The characterization of the subtypes of this leukemia has also been improved, which differ in their genomic characteristics and clinical evolution. “Beyond the genetic sequences, the expression patterns of certain genes have allowed us to subcategorize the disease, which provides very valuable prognostic information,” explains Xose S. Puente, researcher at the University Institute of Oncology of the University of Oviedo. and from CIBERONC and main co-author of the study.
The clinical outcomes of the patients were associated with the genomic, transcriptomic, and epigenomic characteristics of their tumor, so The integration of this data can predict a patient's probability of having a disease very indolent for many years, experiencing remission after treatment, or the possibility that your leukemia may become more aggressive and require new treatments.
The results of this study may have a important impact on clinical practice, since "the new map will allow us to compare the genomic characteristics of the new patients with the data of patients with similar genetic profiles and to know what their evolution and response to treatments has been," explains Iñaki Martín-Subero, co-main author. of the study, head of the Biomedical Epigenomics group at IDIBAPS and researcher at CIBERONC.
A tool open to research
One of the objectives of the study is that this information be used by the scientific community to advance the treatment of this disease. To this end, the map identified in this study has been transformed into an interactive web portal so that researchers around the world can use it as a resource in their research and can advance their knowledge of the causes and characteristics of the different subtypes of CLL.
"The new LLC map allows us move towards precision medicine in this disease, since it can help us more accurately adapt the prognosis and treatment of a new patient based on their particular molecular characteristics,” concludes Elías Campo.
Source: Heraldo de Aragón
