57th ASH Annual Meeting and Exposition (December 5-8, 2015): 636. Myelodysplastic Syndromes – Basic and Translational Studies: Consequences of Splicing Factor Alterations and Genetic Instability

Myelodysplastic Syndromes – Basic and Translational Studies Oral and Poster Abstracts
Oral

Valencia D (W415D), Level 4 (Orange County Convention Center)

Moderators:

Daniel Starczynowski, PhD, University of Cincinnati College of Medicine and Sara T.O. Saad, M.D., Ph.D., University of Campinas

Disclosures:

No relevant conflicts of interest to declare.

4:00 PM

139

Different Mutant Splicing Factors Cause Distinct Missplicing Events and Give Rise to Different Clinical Phenotypes in Myelodysplastic Syndromes

Yusuke Shiozawa, MD¹^*, Luca Malcovati, MD^2,3^*, Aiko Sato-Otsubo⁴^*, Anna Gallì^2,3^*, Kenichi Yoshida, MD, Ph.D.¹^*, Tetsuichi Yoshizato, MD¹^*, Yusuke Sato, MD, PhD¹^*, Keisuke Kataoka, MD, Ph.D.¹^*, Masashi Sanada, MD, Ph.D.⁵^*, Hideki Makishima, MD, Ph.D.¹, Yuichi Shiraishi, MD, Ph.D.⁶^*, Kenichi Chiba, BA⁶^*, Satoru Miyano, MD, Ph.D.⁶^*, Eva Hellström Lindberg, MD, PhD⁷^*, Seishi Ogawa, MD, Ph.D.¹ and Mario Cazzola, MD^2,3

¹Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan
²Department of Molecular Medicine, University of Pavia, Pavia, Italy
³Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Pavia, Italy
⁴Tumor Biology, Department of Medicine, Kyoto University, Kyoto, Japan
⁵Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
⁶Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, Japan
⁷Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden

4:15 PM

140

Sf3b1 K700E Mutation Impairs Pre-mRNA Splicing and Definitive Hematopoiesis in a Conditional Knock-in Mouse Model

Annalisa Mupo, PhD¹^*, Vijitha Sathiaseelan¹^*, Michael Seiler, PhD²^*, David Kent, PhD³^*, Shouyong Peng, PhD²^*, Ruben Bautista¹^*, Suruchi Pacharne¹^*, Barry Rosen¹, Manousos Koutsourakis¹^*, Nicla Manes¹^*, Frances Law¹^*, Elli Papaemmanuil, PhD¹^*, Silvia Buonamici, PhD², Peter J Campbell, MD, PhD⁴^*, Niccolo Bolli, mD, PhD^1,5^* and George S. Vassiliou, MD, PhD¹^*

¹Wellcome Trust Sanger Institute, Cambridge, United Kingdom
²H3 Biomedicine, Cambridge, MA
³University of Cambridge, Cambridge, United Kingdom
⁴Cancer genome Project, Wellcome Trust Sanger Institute, Cambridge, United Kingdom
⁵Division of Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori, University of Milano, Milan, Italy

4:30 PM

141

Integrative Genome-Wide Analysis of RNA Binding and Splicing Reveals Complex Loss and Gain of Function Alterations By SRSF2 P95 Mutations in Myelodysplasia

Kai Rejeski¹^*, Yang Liang, M.D., Ph.D.¹^*, Toma Tebaldi, Ph.D.²^*, Giovanni Stefani, Ph.D.²^*, Ashley Taylor, M.Sc.¹^*, Jamie Maziarz, M.Sc.¹^*, Yuanbin Song, M.D.¹^*, Kunthavai Balasubramanian, M.Sc.¹^*, Radovan Vasic, B.Sc.¹^*, Edo Kapetanovic¹^*, Omar Abdel-Wahab³, Manoj M Pillai, MD¹ and Stephanie Halene, M.D., Ph.D.¹

¹Section of Hematology/Department of Internal Medicine and Yale Cancer Center, Yale University School of Medicine, New Haven, CT
²Laboratory of Translational Genomics, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy
³Memorial Sloan Kettering Cancer Center, New York, NY

4:45 PM

142

Lineage-Specific Aberrant mRNA Splicing By U2AF1 Mutation Alters Erythroid and Granulomonocytic Differentiation

Bon Ham Yip, PhD¹^*, Swagata Roy, PhD¹^*, Hamid Dolatshad, PhD¹^*, Jacqueline Shaw¹^*, Seishi Ogawa, MD, Ph.D.², Andrea Pellagatti, PhD¹^* and Jacqueline Boultwood, PhD¹

¹Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom
²Department of Pathology and Tumor Biology, Graduate School of Medicine, Kyoto University, Kyoto, Japan

5:00 PM

143

Ubiquitin Editing of a Spliceosome Auxiliary Factor By TRAF6 Links Chronic TLR Signaling with Hematopoietic Defects and Myelodysplasia

Jing Fang, MD., Ph.D.¹^*, Lyndsey Bolanos, BSc¹^*, Kwang-Min Choi, PhD¹^*, Xiaona Liu, Ms¹^*, Susanne Christie¹^*, Shailaja Akunuru, PhD¹^*, Rupali Kumar, PhD¹^*, Ken Greis, PhD²^*, Peter Stoilov, PhD³^*, Marie-Dominique Filippi, PhD¹^*, Jaroslaw P. Maciejewski, MD, PhD⁴, Guillermo Garcia-Manero, MD⁵, Matthew Weirauch, PhD⁶^*, Nathan Salomonis, PhD⁷^*, Hartmut Geiger, PhD¹^*, Yi Zheng, PhD¹^* and Daniel Starczynowski, PhD^1,2^*

¹Division of Experimental Hematology and Cancer Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
²Department of Cancer Biology, University of Cincinnati College of Medicine, Cincinnati, OH
³Department of Biochemistry, West Virginia University, Morgantown, WV
⁴Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH
⁵Department of Leukemia, MD Anderson Cancer Center, Houston, TX
⁶Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
⁷Division of Biomedical Informatics, Cincinnati Children’s Hospital Research Medical Center, Cincinnati, OH

5:15 PM

144

Inflammaging-Associated Metabolic Alterations Foster Development of the MDS Genotype

Sheng Wei, MD¹, Erika Adriana Eksioglu, PhD, MS¹^*, Xianghong Chen, PhD¹^*, Thomas Cluzeau, MD, PhD²^*, Ashley Basiorka¹^*, Alexis Burnette¹^*, Max Wei¹^*, Kathy L McGraw, Ph.D.¹, Eric Padron, M.D.¹ and Alan F. List, MD³

¹H Lee Moffitt Cancer Center & Research Institute, Tampa, FL
²INSERM U1065, Centre Mediterraneen de Medecine Moleculaire, Nice, France
³Department of Hematologic Malignancies, Moffitt Cancer Center and Research Institute, Tampa, FL

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^*signifies non-member of ASH

636.O2.6 636. Myelodysplastic Syndromes – Basic and Translational Studies: Consequences of Splicing Factor Alterations and Genetic Instability