Human Gene Set: MATTIOLI_MULTIPLE_MYELOMA_WITH_14Q32_TRANSLOCATIONS


Standard name MATTIOLI_MULTIPLE_MYELOMA_WITH_14Q32_TRANSLOCATIONS
Systematic name M18467
Brief description Genes expressed in multiple myeloma (MM) patients carrying specific translocations involving the immunoglobulin heavy chain (IGH) locus at 14q32.
Full description or abstract Multiple myeloma (MM) is the most common form of plasma cell dyscrasia, characterized by a marked heterogeneity of genetic lesions and clinical course. It may develop from a premalignant condition (monoclonal gammopathy of undetermined significance, MGUS) or progress from intramedullary to extramedullary forms (plasma cell leukemia, PCL). To provide insights into the molecular characterization of plasma cell dyscrasias and to investigate the contribution of specific genetic lesions to the biological and clinical heterogeneity of MM, we analysed the gene expression profiles of plasma cells isolated from seven MGUS, 39 MM and six PCL patients by means of DNA microarrays. MMs resulted highly heterogeneous at transcriptional level, whereas the differential expression of genes mainly involved in DNA metabolism and proliferation distinguished MGUS from PCLs and the majority of MM cases. The clustering of MM patients was mainly driven by the presence of the most recurrent translocations involving the immunoglobulin heavy-chain locus. Distinct gene expression patterns have been found to be associated with different lesions: the overexpression of CCND2 and genes involved in cell adhesion pathways was observed in cases with deregulated MAF and MAFB, whereas genes upregulated in cases with the t(4;14) showed apoptosis-related functions. The peculiar finding in patients with the t(11;14) was the downregulation of the alpha-subunit of the IL-6 receptor. In addition, we identified a set of cancer germline antigens specifically expressed in a subgroup of MM patients characterized by an aggressive clinical evolution, a finding that could have implications for patient classification and immunotherapy.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 15735737   Authors: Mattioli M,Agnelli L,Fabris S,Baldini L,Morabito F,Bicciato S,Verdelli D,Intini D,Nobili L,Cro L,Pruneri G,Callea V,Stelitano C,Maiolo AT,Lombardi L,Neri A
Exact source Table 2S
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Source species Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
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identifier namespace		 AFFY_HG_U133
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Version history 3.0: First introduced

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