plasma cell myeloma
Multiple myeloma (MM) is a malignancy of clonal bone marrow plasma cells characterized by a high genomic instability increasing with disease progression.
Multiple myeloma is a plasma cell malignancy characterized by complex heterogeneous cytogenetic abnormalities.
The bone marrow microenvironment promotes multiple myeloma cell growth and resistance to conventional therapies.
Although multiple myeloma remains incurable, novel targeted agents, used alone or in combination, have shown great promise to overcome conventional drug resistance and improve patient outcome.
CGH (Genome-wide DNA profiling)
losses
- 1p losses
- 13q losses
- 17p losses
- 14q losses
gains
- 1q gains (88%)
- 8q gains
- 18q gains
- 7q gains
- 20q gains
regional amplifications
Cytogenetics
translocations
- t(4;14)(p16;q32) (16213370)
- t(14;16)(q32;q23)
- t(11;14)(q13;q32)
hyperdiploidy (hyperdiploid myeloma)
References
Hideshima T, Mitsiades C, Tonon G, Richardson PG, Anderson KC. Understanding multiple myeloma pathogenesis in the bone marrow to identify new therapeutic targets. Nat Rev Cancer. 2007 Aug;7(8):585-98. PMID: 17646864
Fabris S, Todoerti K, Mosca L, Agnelli L, Intini D, Lionetti M, Guerneri S, Lambertenghi-Deliliers G, Bertoni F, Neri A. Molecular and transcriptional characterization of the novel 17p11.2-p12 amplicon in multiple myeloma. Genes Chromosomes Cancer. 2007 Sep 6; PMID: 17823926
Lombardi L, Poretti G, Mattioli M, Fabris S, Agnelli L, Bicciato S, Kwee I, Rinaldi A, Ronchetti D, Verdelli D, Lambertenghi-Deliliers G, Bertoni F, Neri A. Molecular characterization of human multiple myeloma cell lines by integrative genomics: insights into the biology of the disease. Genes Chromosomes Cancer. 2007 Mar;46(3):226-38. PMID: 17171682
Chng WJ, Ketterling RP, Fonseca R. Analysis of genetic abnormalities provides insights into genetic evolution of hyperdiploid myeloma. Genes Chromosomes Cancer. 2006 Dec;45(12):1111-20. PMID: 16955468
Claudio JO, Stewart AK. Advances in myeloma genetics and prospects for pharmacogenomic testing in multiple myeloma. Am J Pharmacogenomics. 2005;5(1):35-43. PMID: 15727487