The adverse prognostic role of cytogenetic abnormalities has recently
been established in plasma cell dyscrasias. Modern techniques such as
fluorescence in situ hybridization and comparative genomic hybridization
have revealed a higher incidence of cytogenetic abnormalities in
patients with multiple myeloma (MM) compared to conventional
cytogenetics. Hypodiploidy and chromosome 13 abnormalities are found in
more than 50% of myeloma patients, representing well known factors with
adverse prognosis. Rearrangements involving the switch regions of
immunoglobulin heavy chain (IgH) gene at 14q32 with various partner
genes represent the most common structural abnormalities, having an
incidence of 70% in MM. Structural abnormalities of chromosomes 17 and
8 involving the p53 and c-myc genes are considered to be less frequent
events, but carry a poor prognosis. New therapeutic approaches such as
non-myeloablative allotransplantation and modern therapeutic agents
(thalidomide, lenalidomide, and bortezomib) and their combinations give
promise for an improved therapeutic management of patients with MM. The
detection of t(4; 14), t(14; 16), deletion of chromosome 13 on metaphase
analysis, or deletion of p53 by FISH will define high-risk prognostic
groups that are not generally controlled with high-dose melphalan and
autologous stem cell transplantation (ASCT), and should therefore be
treated with more investigational therapies. Alternatively, eligible
patients who do not have these poor risk factors are more likely to
benefit from a high-dose, melphalan-based, regimen followed by ASCT