An international team, coordinated by researchers from the August Pi i Sunyer Institute for Biomedical Research (IDIBAPS) and the University of Barcelona (UB), has completed the map of genetic changes in the chronic lymphatic leukemia. This tool will provide a better understanding of pathology and may lead to more accurate prognoses, improved diagnoses and new treatments. The results were published in the journal Natural genetics.
It is a type of blood cancer and the most common leukemia in the Western world, with an incidence of approximately 5 cases per 100,000 population per year.
It is a type of blood cancer and the most common leukemia in the Western world, with an incidence of approximately 5 cases per 100,000 population per year. It is characterized by an increase in the number of B cellsa type of white blood cell that can be detected accidentally during a routine blood test.
This disease can be slow growing and with a good prognosis or fast and aggressive, so it is essential to know the molecular alterations which cause this very different evolution.
“The goal has been to provide a virtually complete catalog of all genomic alterations that cause CLL and its molecular subtypes. The genome of more than a thousand patients has been analyzed using new bioinformatics tools for more than four years”, he specifies. Field of Elijahstudy co-author and IDIBAPS researcher.
More than a hundred new genes identified
To construct the 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 them new) which, when mutated, can lead to disease onset and progression. The characterization of the subtypes of this leukaemia, which differ in their genomic characteristics and their clinical evolution, has also been perfected.
The study identified 202 genes (including 109 new ones) which, when mutated, can lead to the onset and progression of the disease
“The expression profiles of certain genes allowed us to subcategorize the pathology, which provides very valuable prognostic information,” he explains. Xose S. Puenteresearcher at the University Institute of Oncology of the University of Oviedo (WOW) and co-author of the study.
The bone clinical results of patients were associated with the characteristics of their tumour, thus the integration of these data makes it possible to predict the probability of having a very indolent disease for many years, of experiencing remission after treatment, or that their leukemia is more aggressive and requires new treatments.
IDIBAPS researchers who participated in the study: Martí Duran-Ferrer, Iñaki Martín-Subero, Elías Campo and Ferran Nadeu. / IDIBAPS
The findings of the study may have an important impact on clinical practice, since “the new map will allow us to compare the genomic characteristics of new patients with data from other similar genetic profiles and to know what their evolution and response to treatment”. ” , Explain Inaki Martin-Suberoco-author of the study and also a researcher at IDIBAPS.
An open search tool
One of the objectives of the study is that this information be used by the scientific community to advance in the treatment of this pathology. To do this, the map was transformed into a interactive web portal. Thus, researchers around the world can use it as a resource in their projects and advance knowledge of the causes and characteristics of the different subtypes of chronic lymphocytic leukemia.
The map has been transformed into an interactive web portal so that researchers around the world can use it as a resource and advance knowledge of the causes and characteristics of the different subtypes of this leukemia.
“The new map allows us to move towards precision medicine in this disease, as it can help us tailor the prognosis and treatment of a new patient more precisely according to their particular molecular characteristics,” he concludes. Field of Elijah.
Rights: Creative Commons.