Multiple myeloma (MM) is a malignant disorder due to clonal proliferation of plasma cells
in the bone marrow in association with elevated serum or urine monoclonal paraprotein levels. MM is
associated, particularly in the most advanced stages of the disease, with severe complication, like lytic
bone lesion, anemia, immunodeficiency and renal failure. Despite advances in the understanding of the
disease and the use of high-dose chemotherapy, MM remains an incurable disease.
From a genetic standpoint, MM development is a multistep process characterized by the presence of a
series of chromosomal abnormalities and complex translocations, involving known oncogenes and
tumor-suppressor genes. Genomic aberrations are present with increasing frequency as disease
progresses. There is an increasing evidence that, in addition to genomic abnormalities, epigenetic
dysregulation plays a pivotal role in MM development, making the picture even more complex.
Keywords: Translocations, hyperdiploidy, non-hyperdiploidy, FGFR3, MMSET, MAF, minimal common
regions, myc, ras, TP53, NFB, IRF4, epigenetics, histones, microRNAs.
