Genome profiling of multiple myeloma - Update of routine diagnostic approach

Multiple myeloma (MM) is characterised by neoplastic transformation of mature B cells in the bone marrow. It is heterogeneous diesease at both clinical and genetic level. Recent advances in molecular genetics and genomic studies have demonstrated that the disease evolution is associated with specific genetic aberrations, which not only shed light on the pathogenesis of MM but allows risk assessment and treatment monitoring. Here we present a study of 23 patients investigated by conventional karyotyping, FISH and whole genome screening aiming to devise a diagnostic algorithm to offer a comprehensive genomic profiling of MM.