Human Gene Set: ABRAHAM_ALPC_VS_MULTIPLE_MYELOMA_DN


Standard name ABRAHAM_ALPC_VS_MULTIPLE_MYELOMA_DN
Systematic name M9880
Brief description Genes down-regulated in immunoglobulin light chain amyloidosis plasma cells (ALPC) compared to multiple myeloma (MM) cells.
Full description or abstract Immunoglobulin light chain amyloidosis (AL) is characterized by a clonal expansion of plasma cells within the bone marrow. Gene expression analysis was used to identify a unique molecular profile for AL using enriched plasma cells (CD138+) from the bone marrow of 24 patients with AL and 28 patients with multiple myeloma (MM) and 6 healthy controls. Class prediction analysis (PAM) revealed a subset of 12 genes, which included TNFRSF7 (CD27), SDF-1, and PSMA2, that distinguished between these 2 groups with an estimated and observed accuracy of classification of 92%. This model was validated with an independent dataset of 11 patients with AL and 12 patients with MM with 87% accuracy. Differential expression for the most discriminant genes in the 12-gene subset was validated using quantitative real-time polymerase chain reaction and protein expression analysis, which upheld the observations from the micro-array expression data. Functional analyses using a novel network mapping software revealed a number of potentially significant pathways that were dysregulated in patients with AL, with those regulating proliferation, apoptosis, cell signaling, chemotaxis, and migration being substantially represented. This study provides new insight into the molecular profile of clonal plasma cells and its functional relevance in the pathogenesis of light chain amyloidosis.
Collection C2: Curated
      CGP: Chemical and Genetic Perturbations
Source publication Pubmed 15388584   Authors: Abraham RS,Ballman KV,Dispenzieri A,Grill DE,Manske MK,Price-Troska TL,Paz NG,Gertz MA,Fonseca R
Exact source Table 5
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Source species Homo sapiens
Contributed by Kevin Vogelsang (MSigDB Team)
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Version history 3.0: Renamed from ABRAHAM_AL_VS_MM_DN

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