Completion of the genomic map of chronic lymphatic leukemia, with Aragonese participation | Aragon

An international team of researchers, with the participation of Aragonese scientist Elías Campo, has completed the map of genetic changes in chronic lymphatic leukemia (CLL), the most common in the Western world. This tool will provide a better understanding of the disease and may lead to more accurate prognoses for patients, better diagnoses and the development of new treatments.

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

Photograph by scientist Elías Campo. / European Press

The study, published this Thursday in the journal Nature Genetics, analyzed the genome of more than 1,000 patientsand was coordinated by researchers from IDIBAPS-Hospital Clínic, University of Barcelona, ​​University of Oviedo, Cancer Network Biomedical Research Center (Ciberonc), Dana-Farber Cancer Institute and MIT Broad Institute and Harvard University (USA) and the University of Ulm (Germany).

Chronic lymphatic leukemia (CLL) is a type of blood cancer and is the most common type of leukemia in the Western world, with a incidence 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 cells, which can be detected incidentally during routine blood tests. In some cases it can be slow growing and have a good prognosis, while in others it can be fast and aggressive.

Knowledge of the molecular alterations at the origin of this very different evolution could make it possible to know the prognosis at an early stage. Previous studies have provided fragments of a CLL map, each focused on particular types of patients or with limited data.

Analysis of more than 1,140 patients

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

The study identified 202 genes (including 109 new ones) which, when mutated, can lead to disease onset and progression. JThe characterization of the subtypes of this leukaemia, which differ in their genomic characteristics and their clinical evolution, has also been perfected.

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

Patients’ clinical outcomes were associated with the genomic, transcriptomic and epigenomic characteristics of their tumor, as well as integration of this data can predict a patient’s likelihood of having very indolent disease for many years, of experiencing remission after treatment, or of the likelihood that their leukemia will be more aggressive and require new treatments.

The results of this study could have an important impact on clinical practice.since “the new map will make it possible to compare the genomic characteristics of the new patients with the data of patients with similar genetic profiles and to know their evolution and their response to the treatment”, added the co-lead author of the study and leader of the group of biomedical epigenomics IDIBAPS, Iñaki Martín-Subero.

One of the goals of the study is for this information to be used by the scientific community to advance the treatment of this disease.. To do this, 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 advance their understanding of the causes and characteristics of the different subtypes of LLC.

“The new LLC card allows us to move towards precision medicine in this disease, because it can help us to adapt more precisely the prognosis and the treatment of a new patient according to his particular molecular characteristics”, concluded the Aragonese Elías Campo.

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