Abstract: The present invention discloses a method of applying novel bioinformatics and computational methodologies to data generated by high-resolution genome-wide comparative genomic hybridization and gene expression profiling on CD138-sorted plasma cells from a cohort of 92 newly diagnosed multiple myeloma patients treated with high dose chemotherapy and stem cell rescue. The results revealed that gains the q arm and loss of the p arm of chromosome 1 were highly correlated with altered expression of resident genes in this chromosome, with these changes strongly correlated with 1) risk of death from disease progression, 2) a gene expression based proliferation index, and 3) a recently described gene expression-based high-risk index. Importantly, we also found a strong correlation between copy number gains of 8q24, and increased expression of Argonate 2 (AGO2) a gene coding for a master regulator of microRNA expression and maturation, also being significantly correlated with outcome.

Abstract: The present invention discloses a method of gene expression profiling to identify genomic signatures linked to survival specific for a disease and a kit that can be used for performing such a method. Also disclosed herein is the use of such a method in classifying the disease into subsets, predicting clinical outcome and survival of an individual, selecting treatment for an individual suffering from a disease, predicting post-relapse risk and survival of an individual, correlating molecular classification of a disease with genomic signature defining the risk group or a combination thereof.