Hematological diseases are highly heterogeneous malignancies in the matter of the molecular mechanisms related to their development and progression. A considerable heterogeneity can be further observed within the same hematological disease at the inter-individual level, being reflected by different clinical outcomes and responses to treatment in different patients.
Nowadays, the advent of high-throughput next generation sequencing (NGS) technologies, which are revolutionizing genomics and transcriptomics by providing a single base resolution tool for a unified deep analysis of diseases complexity, allows a fast and cost-efficient fine-scale assessment of the genetic variability hidden within cohorts of patients affected by the same leukemia. That being so, by potentially highlighting inter-individual differences that may play a role in the differential success of diverse therapeutic interventions, they promise to be crucial for selecting the most appropriate medical treatments.
The NGS-PTL project thus aims at developing a European platform of scientists for improving outcomes for therapeutic interventions on acute and chronic leukemias and at developing strategies to personalize treatments and tailor therapies to different groups of leukemia patients, with the main goal of optimizing their efficacy and safety through a deeper and deeper understanding of the influence of genomic alterations on leukemias pathogenesis and treatment response (i.e. “personalized therapy”).
The systematic whole exome/transcriptome studies on well-clinically-characterized leukemia patients scheduled within the project are therefore expected to help the identification of novel prognostic biomarkers for acute and chronic leukemias, as well as of molecular biomarkers and/or genome-wide profiles for the assessment of minimal residual disease.