66th ASH Annual Meeting: 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Disease Modeling and Molecular Mechanisms

Symposia: Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital Oral and Poster Abstracts
Oral

Research, Fundamental Science, Acute Myeloid Malignancies, AML, Antibody Therapy, Bleeding and Clotting, Translational Research, Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, Genetic Disorders, Genomics, Bioinformatics, Chemotherapy, Platelet disorders, Hematopoiesis, Diseases, Cell expansion, Clinical procedures, Biological therapies, Treatment Considerations, Non-Biological therapies, Adverse Events, Biological Processes, Myeloid Malignancies, Molecular biology, Technology and Procedures, Gene editing, Study Population, Pathogenesis, Animal model, Transplantation (Allogeneic and Autologous), Molecular testing, Omics technologies

Room 7 (San Diego Convention Center)

Moderators:

Sushree Sahoo, PhD, St. Jude Children's Research Hospital and Alejandro Ferrer, PhD, Mayo Clinic

Disclosures:

No relevant conflicts of interest to declare.

This session will feature novel research on mechanisms associated with critical pathways involved in the pathophysiology of inherited bone marrow and cancer predisposition syndromes.

2:00 PM

193

Somatic TP53 Mutations Rescue the Hematopoietic Stem and Progenitor Cell Defect at the Expense of Increased Risk for Myeloid Malignancies in ERCC6L2-Associated Inherited Bone Marrow Failure Syndrome

Roman R. Schimmer, MD¹^*, Nancy Klemm, MSc²^*, Ebru Topçu, MSc²^*, Jonas Fullin, MSc²^*, Karolina Zielinska, PhD²^*, Cyril Doerdelmann, PhD³^*, Melissa Lock, MSc¹^*, Milena Treacy, BSc¹^*, Francisco Caiado, PhD¹^*, Nadja Dietliker, MD¹^*, Rahel Schwotzer, MD¹^*, Markus G. Manz, MD², Massimo Lopes, PhD³^* and Steffen Boettcher, MD²^*

¹Department for Medical Oncology and Hematology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
²Department of Medical Oncology and Hematology, University Hospital Zurich and University of Zurich, Zurich, Switzerland
³Institute of Molecular Cancer Research, University of Zurich, Zurich, Switzerland

2:15 PM

194

Disease Correction of a Diamond-Blackfan Anemia Mouse Model Using Non-Genotoxic Conditioning and Hematopoietic Stem Cell Transplantation

Leah Swartzrock^1,2^*, Y. Lucy Liu, MD, PhD^1,3, Hana Hoang, MS^1,2^*, Katie Ho^1,2^*, Nicholas Neoman^1,3^*, Mark R. Krampf^1,2^*, Kathleen M. Sakamoto, MD, PhD^3,4 and Agnieszka D. Czechowicz, MD, PhD^1,2

¹Department of Pediatrics, Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA
²Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA
³Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA
⁴Stanford University, Stanford, CA

2:30 PM

195

Hematopoietic Stem Cells Supporting Fetal Erythropoiesis Are Differentially Regulated By Small and Large Ribosomal Subunits

Yuefeng Tang, PhD^1,2, Te Ling, PhD³, Rashid Mehmood, PhD³^*, Mushran Khan⁴^*, Julien Papoin, MS⁵^*, James Palis, MD^6,7, Laurie A. Steiner, MD^8,9, Sébastien Durand¹⁰^*, Leonard I. Zon, MD¹¹, Senthil Velan Bhoopalan, MD, PhD³^*, Mitchell J Weiss, MD, PhD^12,13, Jeffrey Michael Lipton, MD, PhD^14,15, Naomi Taylor, MD^16,17, Patrick G. Gallagher, MD^18,19,20, Mohandas Narla, DSc²¹, John D. Crispino, PhD^3,12 and Lionel Blanc, PhD^22,23,24

¹The Feinstein Institutes for Medical Research, Northwell Health, Manhasset, NY
²Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY
³Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN
⁴1. The Feinstein Institutes for Medical Research, Manhasset, NY
⁵Feinstein Institutes for Medical Research, Northwell, Manhasset, NY
⁶University of Rochester Medical Center, Rochester, NY
⁷University of Rochester, Rochester, NY
⁸Department of Pediatrics, University of Rochester, Rochester, NY
⁹Center for Pediatric Biomedical Research, Department of Pediatrics, University of Rochester Medical Center, Rochester, NY
¹⁰Centre de Recherche en Cancérologie de Lyon, Lyon, France
¹¹Stem Cell Program and Division of Hematology/Oncology, Boston Children's Hospital; Howard Hughes Medical Institute; Harvard Medical School; Harvard Stem Cell Institute; Harvard University, Boston, MA
¹²St. Jude Children's Research Hospital, Memphis, TN
¹³Department of Hematology, St. Jude Childrens Research Hospital, Memphis, TN
¹⁴The Feinstein Institutes for Medical Research, Manhasset, NY
¹⁵Cohen Children's Medical Center of NY, New Hyde Park, NY
¹⁶National Cancer Institute, Bethesda, MD
¹⁷Pediatric Oncology Branch, National Institutes of Health, Bethesda, MD
¹⁸Center for Perinatal Research, Nationwide Childrens, Ohio State University, Columbus, CT
¹⁹Center for Perinatal Research, Nationwide Childrens, Ohio State University, New Albany, OH
²⁰Center for Perinatal Research, Nationwide Childrens, Ohio State University, Columbus, OH
²¹New York Blood Center Enterprises, New York
²²Institute of Molecular Medicine, The Feinstein Institute For Medical Research, Manhasset, NY
²³Feinstein Institutes for Medical Research, Manhasset, NY
²⁴Department of Molecular Medicine and Pediatrics, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY

2:45 PM

196

Modeling GATA2 Deficiency in Mice: The R396Q Mutation Disrupts Normal Hematopoiesis

Trent D Hall, PhD¹^*, Rashid Mehmood, PhD¹^*, Diana Sa da Bandeira, PhD¹^*, Anitria Cotton, MBA, BS¹^*, Jonathon Klein, MS²^*, Shondra M Pruett-Miller, PhD²^*, Shai Izraeli, MD³, Wilson K Clements, PhD¹ and John D. Crispino, PhD¹

¹Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN
²Center for Advanced Genome Engineering, St Jude Children's Research Hospital, Memphis, TN
³Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petah Tikva, Israel

3:00 PM

197

PARP Inhibitor Treatment Increases DNA Damage in Bone Marrow and Drives Compensatory Changes in Multiple Hematopoietic Stem and Progenitor Cell Populations Contingent on Brca1 Genotype

Sarah Obregon, MS^1,2^*, Dalton McLean, PhD^1,2^*, Sarah Miller, BS³^*, Amer Mohiuddin, BS³^*, Heather Hardin, MS^1,2^*, Fauzia Hollnagel, MPH⁴^* and Jane E Churpek, MD, MS^1,2,4,5

¹Wisconsin Blood Cancer Research Institute, University of Wisconsin Madison, Madison, WI
²Carbone Cancer Center, University of Wisconsin Madison, Madison, WI
³University of Wisconsin Madison, Madison, WI
⁴Department of Medicine, The University of Wisconsin-Madison, Madison, WI
⁵Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, University of Wisconsin-Madison, Madison, WI

3:15 PM

198

CD74 Signaling Regulates Inflammatory Stress to Drive Defective Hematopoiesis and Fitness Advantage of Progenitors in RUNX1-Familial Platelet Disorder

Mona M.Hosseini, PhD, BS¹, Trevor Enright, M.S.²^*, Adam S. Duvall, MD³, Alex Chitsazan⁴^*, Hsin-Yun Lin, PhD⁴^*, Aysegul Ors, Ph.D.¹^*, Brett Davis, M.S.¹^*, Olga Nikolova, PhD¹^*, Erica Bresciani, PhD⁵^*, Jamie Lynn Diemer, PhD⁶^*, Kathleen Craft⁷^*, Catarina Menezes⁸^*, Matthew Merguerian⁷^*, Shawn Chong⁷^*, Katherine R. Calvo, MD, PhD^9,10, Shira Glushakow-Smith¹¹, Kira Gritsman, MD, PhD¹², Lucy A. Godley, MD, PhD¹³, Marshall S Horwitz, M.D., Ph.D.¹⁴, Sioban Keel, MD¹⁵, Lucio H. Castilla, PhD¹⁶, Emek Demir, PhD¹⁷^*, Hisham Mohammed, Ph.D.¹⁸^*, Paul P. Liu, MD, PhD⁷ and Anupriya Agarwal, PhD¹⁹

¹Oregon Health and Science University, Portland, OR
²The Knight Cancer Institute, Oregon Health and Science University, Portland, OR
³Department of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, IL
⁴The Knight Cancer Institute, Oregon Health and Science University, Portland
⁵NHGRI/NIH, Bethesda, MD
⁶National Human Genome Research Institute, Bethesda
⁷Oncogenesis and Development Section, National Human Genome Research Institute, NIH, Bethesda, MD
⁸Oncogenesis and Development Section, National Human Genome Research Institute, Bethesda, MD
⁹National Institutes of Health (NIH), Bethesda, MD
¹⁰Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD
¹¹Department of Cell Biology, Albert Einstein College of Medicine, Bronx, NY
¹²Department of Cell Biology, Albert Einstein College of Medicine, Bronx
¹³Northwestern University, Chicago, IL
¹⁴Institute for Stem Cell & Regenerative Medicine, Department of Laboratory Medicine & Pathology, University of Washington School of Medicine, Seattle, WA
¹⁵University of Washington, Seattle, WA
¹⁶UMass Med. School, Worcester, MA
¹⁷Oregon Health and Science University, Portland
¹⁸Oregon Health & Science University, Portland, OR
¹⁹The Knight Cancer Institute, Oregon Health %26 Science University, Portland, OR

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^*signifies non-member of ASH

509.O2.6 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Disease Modeling and Molecular Mechanisms