Modern advances in genomics and cancer biology, including our own studies, have produced an unprecedented body of knowledge regarding the molecular pathogenesis of mature B-cell tumors. Our group is working on the translation of newly discovered genetic lesions into the clinical practice as biomarkers for the refinement of the diagnostic workup, prognostic stratification and treatment of B-cell tumor patients.
Chronic lymphocytic leukaemia (CLL) treatment has dramatically improved with the approval of B-cell receptor (BCR) inhibitors and the clinical relevance of historical predictive/prognostic factors of CLL is questioned, at least in part, by these novel agents. The group is running translational studies aiming at discovering novel markers that can help the early prediction of sustained benefit vs loss of benefit from novel agents treatment in CLL.
Accessible and real-time genotyping for diagnostic, prognostic or treatment purposes is increasingly impelling in mature B-cell tumors lacking a leukemic phase. Cell-free DNA (cfDNA) is shed into the blood by tumor cells undergoing apoptosis and can be used as source of tumor DNA for the identification cancer-gene somatic mutations. By using highly sensitive ultra-deep NGS approaches to track the lymphoma genetic profile, we are comprehensively validating the “liquid biopsy” as a diagnostic tool to inform in real time mature B-cell tumor diagnosis, prognostication and treatment monitoring.
The research focus of the laboratory is the molecular pathogenesis of lymphoma and chronic lymphocytic leukemia.