Prognostic Effect of ASXL1 Mutations in Patients with MDS and Secondary AML Following MDS After Allogeneic Hematopoietic Stem Cell Transplantation

• Published in: Blood 2011-11, Vol.118 (21), p.1709-1709
• Main Authors: Koenecke, Christian, Thol, Felicitas, Löffeld, Patrick, Buchholz, Stefanie, Stadler, Michael, Göhring, Gudrun, Dammann, Elke, Kleine, Moritz, Brauns, Wiebke, Hallensleben, Michael, Schmidtke, Jörg, Schlegelberger, Brigitte, Krauter, Jürgen, Ganser, Arnold, Heuser, Michael
• Format: Article
• Language: English
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V118.21.1709.1709

Abstract 1709 Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative therapy for patients with myelodysplastic syndromes (MDS), but it is associated with high mortality and morbidity. Predictors for treatment outcome after HSCT are limited. Recently, mutations in ASXL1 have been described as an independent adverse prognostic marker for MDS patients not undergoing HSCT. The aim of this study was to investigate the prognostic impact of ASXL1 in a large cohort of patients with high risk MDS or secondary AML following MDS (sAML) undergoing HSCT. Patients and Methods: Patients (n=105) with a diagnosis of MDS (34.3%) or sAML (65.7%) who received an allogeneic HSCT at Hannover Medical School between 1996 and 2010 and for whom genomic DNA was available from a time when the disease was active, were evaluated for the presence of ASXL1 mutations by direct sequencing. Patients gave their informed consent in accordance with the Declaration of Helsinki, and the study was approved by the institutional review board of Hannover Medical School. Overall survival (OS) and cumulative incidence of non-relapse mortality endpoints, measured from HSCT, were death (failure) and alive at last follow-up (censored). A Cox proportional hazards model was constructed for multivariate analysis and the two-sided level of significance was set at P