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REVIEW |
Correspondence to:
Dr G Pratt, Department of Haematology, Birmingham Heartlands Hospital, Bordesley Green East, Birmingham B9 5SS, UK;
prattg{at}heartsol.wmids.nhs.uk
ABSTRACT
Multiple myeloma is a malignant tumour of plasma cells with a median survival of two to three years. Karyotypic instability is seen at the earliest stage of the disease and increases with disease progression, leading to extreme genetic abnormalities similar to solid tumours. Translocations involving the immunoglobulin heavy chain region on chromosome 14q32 are clearly important in the pathogenesis of most myelomas. This review focuses on the different genetic abnormalities found in myeloma and discusses possible pathogenetic mechanisms and the implications for biologically based treatments.
Keywords: multiple myeloma; cytogenetics; fluorescence in situ hybridisation; chromosomal translocations
Abbreviations: CDK, cyclin dependent kinase; CGH, comparative genomic hybridisation; E, enhancer sequence; Fas-L, Fas ligand; FGF, fibroblast growth factor; FGF3R, fibroblast growth factor 3 receptor; FISH, fluorescence in situ hybridisation; HGF, hepatocyte growth factor; IGF, insulin growth factor; IgH, immunoglobulin heavy chain; IL, interleukin; IL-6R, interferon 6 receptor; IRF, interferon regulatory factor; MAPK, mitogen activated protein kinase; MGUS, monoclonal gammopathy of uncertain significance; myeov, myeloma overexpressed gene; OPG, osteoprotegerin; pRb, retinoblastoma protein; RANKL, receptor activator of nuclear factor 
B; Rb, retinoblastoma gene; RT-PCR, reverse transcription polymerase chain reaction; S, switch sequence; SKY, multicolour spectral karyotyping; STAT, signal transducer and activator of transcription; TACC3, transforming acidic coiled coil containing gene; TGF-ß, transforming growth factor ß; TNF-
, tumour necrosis factor ; VEGF, vascular endothelial growth factor
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