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A. Rosenwald, A. A. Alizadeh, D. Widhofp, R. Simon, R. E. Davis, X. Yu, et al., “Relation of Gene Expression Phenotype to Immunoglobulin Mutation Genotype in B Cell Chronic Lymphocytic Leukemia,” Journal of Experimental Medicine, Vol. 194, No. 11, 2001, pp. 1639-1647. http://dx.doi.org/10.1084/jem.194.11.1639

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• TITLE: SEPT10 Expression in Chronic Lymphocytic Leukemia. Correlation with Clinical and Biological Prognostic Factors

  AUTHORS: Ana Travella, Julieta Panero, Carmen Stanganelli, Raimundo Bezares, Irma Slavutsky

  KEYWORDS: Chronic Lymphocytic Leukemia; SEPT10 Expression; FISH; Cytogenetics; IGHV Mutational Status

  JOURNAL NAME: Open Journal of Blood Diseases, Vol.3 No.3A, September 30, 2013

  ABSTRACT: Chronic lymphocytic leukemia (CLL) is characterized by a highly variable clinical course. Microarray studies allowed highlight genes differentially expressed in this pathology. In this study, we have evaluated the prognostic significance of SEPT10 expression in CLL patients. Results were correlated with immunoglobulin heavy-chain variable (IGHV) genes mutational status, genomic rearrangements and clinical parameters. SEPT10 mRNA levels were determined by quantitative real-time PCR in 70 newly diagnosed CLL patients consecutively referred to our Institution. A wide heterogeneity for SEPT10 expression was found. Gene upregulation was observed in 18.5% of cases. The univariate analysis showed a positive association between gen expression and platelet count (p 0.0001) and a negative correlation with hemoglobin levels (p = 0.0094). Although no significant differences were observed, mean treatment free survival was shorter in patients with high expression (31 months) with respect to those with low mRNA levels (72 months). Cases with abnormal karyotypes had increased expression compared to those with normal karyotypes and no association between gene expression and FISH (fluorescence in situ hybridization) risk groups and IGHV mutational status was found. Cases using IGHV3-23 gene rearrangement had low SEPT10 expression. Our results showed an association between SEPT10 expression and features of adverse outcome but without independent prognostic value. The study of SEPT10 expression may be important for a better understanding of disease heterogeneity, adding further information to those provided by established prognostic factors.