An international team of researchers, with the participation of Spanish scientists, has produced the map of the genetic changes in chronic lymphatic leukemia (CLL)the most common in the western world.
This tool will provide better cunderstanding of disease and can lead to more accurate prognoses for patients, improved diagnoses and the development of new treatments.
The study, published this Thursday in the journal Nature Genetics, analyzed the genome of more than 1,000 patients and was coordinated by researchers from the Spanish IDIBAPS-Hospital Clínic, the Spanish University of Barcelona, the Spanish University of Oviedo, the Spanish University Research Center Biomedica en Red de Cancer (Ciberonc), the Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard University (USA), and the University of Ulm (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 approximately 5 cases per 100,000 population 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 early prognosis.
Previous studies have provided fragments of a CLL map, each focused on particular types of patients or with limited data.
“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 a huge effort from a large international team that analyzed the genome of more than 1,000 patients using new bioinformatics tools for more than 4 years,” said the co-lead author. study and responsible for molecular pathology IDIBAPS lymphoid tumors, Elias Campo.
To construct the CLL 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.
The characterization of the subtypes of this leukemia has also been perfected, which differ in their genomic characteristics and its clinical course.
“Beyond the genetic sequences, the expression patterns of certain genes allowed us to subcategorize the disease, which provides very valuable prognostic information,” the study’s co-lead author and researcher explained to the University Institute of Oncology of the University of Oviedo (northern Spain) and Ciberonc, Xose S. Puente.
Patients’ clinical outcomes were associated with the genomic, transcriptomic and epigenomic characteristics of their tumor, so integration of these data can predict the likelihood of a patient having highly indolent disease for many years, remission after treatment or the possibility that your leukemia is more aggressive and requires new treatments.
The results of this study could have a significant impact on clinical practice since “the new card will allow compare genomic characteristics of new patients with data from patients with similar genetic profiles and to know what their evolution and response to treatment has been,” added the co-lead author of the study and head of the IDIBAPS Biomedical Epigenomics group, 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.
We recommend that you read:
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 CLL map allows us to move towards precision medicine in this disease, as it can help us tailor a new patient’s prognosis and treatment more precisely based on their particular molecular characteristics,” said concluded Campos.