STANDARD_NAME	MATTIOLI_MULTIPLE_MYELOMA_SUBGROUPS
SYSTEMATIC_NAME	M15055
COLLECTION	C2:CGP
MSIGDB_URL	https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/MATTIOLI_MULTIPLE_MYELOMA_SUBGROUPS
NAMESPACE	AFFY_HG_U133
DESCRIPTION_BRIEF	Genes differentially expressed in multiple myeloma (MM) patients: comparison of MGUS-like vs PCL-like samples; MGUS=monoclonal gammopathy of undetermined significance, PCL=plasma cell leukemia.
DESCRIPTION_FULL	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.
PMID	15735737
GEOID	GSE2113
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
CONTRIBUTOR	Leona Saunders
CONTRIBUTOR_ORG	MSigDB Team
EXACT_SOURCE	Table 3S
FILTERED_BY_SIMILARITY	
EXTERNAL_NAMES_FOR_SIMILAR_TERMS	
EXTERNAL_DETAILS_URL	
SOURCE_MEMBERS	200703_at,201413_at,201614_s_at,201890_at,202715_at,203542_s_at,204760_s_at,205110_s_at,206626_x_at,206640_x_at,207086_x_at,207663_x_at,207739_s_at,208155_x_at,208235_x_at,208664_s_at,208868_s_at,208869_s_at,209942_x_at,210467_x_at,211458_s_at,212115_at,214612_x_at,215714_s_at,216471_x_at
GENE_SYMBOLS	DYNLL1,HSD17B4,RUVBL1,RRM2,CAD,KLF9,NR1D1,FGF13,SSX1,GAGE1,GAGE1,GAGE1,GAGE1,GAGE1,GAGE1,TTC3,GABARAPL1,GABARAPL1,MAGEA3,MAGEA12,GABARAPL1,JPT2,MAGEA3,SMARCA4,SSX2
FOUNDER_NAMES