Please cite this article in press as: Karlic H, et al. The role of epigenetics in the regulation of apoptosis in myelodysplastic syndromes and acute myeloid leukemia. Crit Rev Oncol/Hematol (2013), http://dx.doi.org/10.1016/j.critrevonc.2013.10.003 ARTICLE IN PRESS ONCH-1801; No. of Pages 16 Critical Reviews in Oncology/Hematology xxx (2013) xxx–xxx The role of epigenetics in the regulation of apoptosis in myelodysplastic syndromes and acute myeloid leukemia Heidrun Karlic a,b, , Harald Herrmann a , Franz Varga c , Roman Thaler c , Rene Reitermaier a,b , Silvia Spitzer c , Viviane Ghanim d , Katharina Blatt a,d , Wolfgang R. Sperr a,d , Peter Valent a,d , Michael Pfeilstöcker a,b,e a Ludwig Boltzmann Cluster Oncology, Vienna, Austria b Ludwig Boltzmann Institute for Leukemia Research and Hematology, Hanusch Hospital, Vienna, Austria c Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling and 1st Medical Department, Hanusch Hospital, Vienna, Austria d Department of Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, Austria e 3rd Medical Department, Hanusch Hospital, Vienna, Austria Accepted 2 October 2013 Contents 1. Background . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 1.1. Epigenetic regulation of apoptosis in low risk MDS . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 1.2. Anti-apoptotic pathways in high risk MDS and AML . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 1.3. Key targets for epigenetic regulation of apoptosis in MDS and AML . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 1.4. Role of DNMT-targeting therapies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 2. Epigenetic regulation of apoptosis and autophagy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 2.1. Regulation of FAS and DAPK1 as well as tumor suppressor genes is associated with promoter methylation . . . . . . . . . . . . . . . 00 2.2. Expression of FAS on CD34 + /CD38 and CD34 + /CD38 + stem and progenitor cells . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 2.3. Drugs induce apoptosis as well as demethylation of FAS and DAPK1. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 2.4. Do FAS- and/or DAPK signaling influence autophagy? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 2.5. siRNA-induced inhibition of FAS causes resistance against AZA and DAC . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 3. Conclusion . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Author contributions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Conflict of interest . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Reviewers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Acknowledgements . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Appendix A. Supplementary data . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 References . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Biography . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 00 Abstract Disordered stem cell epigenetics and apoptosis-regulating mechanisms contribute essentially to the pathogenesis of myelodysplastic syndromes (MDS) and may trigger disease-progression to secondary acute myeloid leukemia (AML). This study was supported by Fonds zur Förderung der Wissenschaftlichen Forschung in Österreich (FWF) grants #P21173-B13, SFB #04611, and the Jubiläumsfonds der Österreichischen Nationalbank (#13068), Fund of the Mayor of the City of Vienna (Medizinisch-Wissenschaftlicher Fonds des Bürger- meisters der Bundeshauptstadt Wien). The sponsors of this study are public or nonprofit organizations that support science in general. They had no role in gathering, analyzing, or interpreting the data. Corresponding author at: Ludwig Boltzmann Cluster Oncology (LBI for Leukemia Research), Hanusch Hospital, Heinrich Collinstraße 30, A-1140 Vienna, Austria. Tel.: +43 1 91021 86907; fax: +43 1 9143214. E-mail addresses: heidrun.karlic@meduniwien.ac.at, heidrun.karlic@onc.lbg.ac.at (H. Karlic). 1040-8428/$ see front matter © 2013 Elsevier Ireland Ltd. All rights reserved. http://dx.doi.org/10.1016/j.critrevonc.2013.10.003