An international team of researchers, led by the scientific Aragonese Elías Campo, finished the map of genetic changes in chronic lymphatic leukemia (LLC), the most common in the Western world.
This tool will provide a better understanding of the 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 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 Broad Institute from MIT and Harvard University (USA) and the University of Ulm (Germany).
“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”
“The purpose of this study was provide a virtually complete catalog of all genomic alterations responsible for CLL and its molecular subtypes. This was a huge effort from a large international team that analyzed the genome of over 1,000 patients using new bioinformatics tools for over 4 years,” remarked the co-lead author of the study and responsible for the molecular pathology of lymphoid neoplasms. group at IDIBAPS, the Aragonese Elías Campo.
The leukemia chronic lymphatic (LLC) is a type of leukemia 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 a increased number of B lymphocytes, a type of white blood cell that can be detected accidentally during a routine blood test. 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 that cause this very different evolution could help to know the prognosis early. Previous studies have provided fragments of a CLL map, each focused on particular types of patients or with limited data.
To build the LLC cardresearchers analyzed variations in genetic sequences, gene expression patterns and chemical modifications of DNA (genomic, transcriptomic and epigenomic data) from 1,148 patients.
In the study 202 genes have been identified (including 109 new ones) which, when mutated, can lead to disease onset and progression. Also characterization of subtypes has been improved of this leukemia, which differ in their genomic characteristics and clinical course.
“The expression profiles of certain genes allowed us to subcategorize the disease”
“Beyond genetic sequences, the expression profiles of certain genes allowed us to sub-categorize 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.
Patient clinical outcomes were associated with the genomic, transcriptomic and epigenomic characteristics of your tumour, thus, integrating this data can predict the likelihood that a patient will have very indolent disease for many years, either in remission after treatment, or the likelihood that their leukemia will be more aggressive and require new treatments.
The results of this study could have a significant impact on clinical practice since “the new card will allow the genomic characteristics of new patients to be compared with data from patients with similar genetic profiles and to know what their evolution and response to treatment has been,” added study co-lead author and head of the IDIBAPS Biomedical Epigenomics Group, Iñaki Martín-Subero.
“The new LLC card allows us to move towards precision medicine in this disease”
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 knowledge of the causes and characteristics of the different subtypes of CLL.
“The new LLC maps us enables progress towards Medication precision in this disease, as it can help us more accurately tailor the prognosis and treatment of a new patient based on their particular molecular characteristics,” Campos concluded.