64th ASH Annual Meeting and Exposition: 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: From Biology to Therapeutics

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

Research, Fundamental Science, autoimmune disorders, Acute Myeloid Malignancies, AML, Translational Research, Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, MPN, Clinical Research, Genetic Disorders, genomics, drug development, hematopoiesis, Chronic Myeloid Malignancies, Diseases, Immune Disorders, Therapies, registries, metabolism, white blood cell disorders, Biological Processes, Myeloid Malignancies, molecular biology

260-262 (Ernest N. Morial Convention Center)

Moderators:

Emma M. Groarke, MD, National Institutes of Health and Lucy C. Fox, MBBS, Epworth Health Care

Disclosures:

No relevant conflicts of interest to declare.

9:30 AM

409

Regulated Expression of GATA1 As a Gene Therapy Cure for Diamond-Blackfan Anemia

Richard A Voit, MD, PhD^1,2,3, Xiaotian Liao^1,2,3^*, Blake Cohen^1,2,3^*, Myriam Armant, PhD³^*, Elena Kamal^2,3^*, Mei-Mei Huang, PhD³^*, William Clarke, MD³^*, David A. Williams, MD^1,3, Akiko Shimamura, MD, PhD^1,3^* and Vijay G. Sankaran, MD, PhD^1,2,3

¹Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA
²Broad Institute, Cambridge, MA
³Boston Children's Hospital, Boston, MA

9:45 AM

410

Manipulation of Thymidine Nucleotide Metabolism Controls Human Telomere Length and Promotes Telomere Elongation in Dyskeratosis Congenita Patient Derived Cells

William Mannherz, BS^1,2,3,4^* and Suneet Agarwal, MD, PhD^1,2,3,4

¹Hematology/Oncology, Boston Children's Hospital, Boston, MA
²Harvard Medical School, Boston, MA
³Dana-Farber Cancer Institute, Boston, MA
⁴Harvard Stem Cell Institute, Boston, MA

10:00 AM

411

Rare Deleterious TCF3 Germline Variants and Predisposition to Acute Lymphoblastic Leukemia in Children

Carolin Escherich, MD¹, Wenan Chen, PhD²^*, Satoshi Miyamoto, MD³^*, Yui Namikawa³^*, Wenjian Yang, PhD⁴^*, David T. Teachey, MD⁵, Zhenhua Li⁶^*, Elizabeth A. Raetz, MD⁷, Eric C Larsen, MD⁸^*, Meenakshi Devidas, PhD⁹^*, Paul L. Martin, MD, PhD¹⁰, W Paul Bowman¹¹^*, Gang Wu, PhD²^*, Ching-Hon Pui, MD¹², Stephen P. Hunger, MD¹³, Masatoshi Takagi³, Jun J. Yang, PhD⁴ and Mignon L. Loh, MD¹⁴

¹Department of Pharmaceutical Sciences, St. Jude Children’S Research Hospital, Memphis, TN
²Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN
³Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan
⁴Department of Pharmacy and Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN
⁵Department of Pediatrics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Rutledge, PA
⁶Department of Pharmaceutical Sciences, St. Jude Children’s Research Hospital, Memphis, TN
⁷Division of Pediatric Hematology and Oncology, Stephen D. Hassenfeld Children's Center for Cancer and Blood Disorders, NYU Langone Health, New York, NY
⁸Department of Pediatrics, Maine Children's Cancer Program, Scarborough, ME
⁹Department of Global Pediatric Medicine, St. Jude Children’s Research Hospital, Memphis, TN
¹⁰Division of Pediatric Blood and Marrow Transplant, Duke University Medical Center, Durham, NC
¹¹Department of Pediatrics, Cook Children's and UNT Health Science Center, Fort Worth, TX
¹²Department of Oncology, St. Jude Children's Research Hospital, Memphis, TN
¹³Department of Pediatrics and the Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA
¹⁴Department of Pediatrics, Division of Pediatric Hematology/Oncology, University of California Benioff Children’s Hospital, Seattle, WA

10:15 AM

412

Biallelic Deleterious Germline SH2B3 Variants Cause a Novel Clinical Syndrome of Myeloproliferation and Multi-Organ Autoimmunity

Piers Blombery, MBBS^1,2, Vahid Pazhakh, PhD^3,4^*, Adriana Albuquerque⁵^*, Jesmeen Maimaris⁵^*, Lingge Tu⁴^*, Brenda Briones⁴^*, Florence Evans⁵^*, Ella Thompson, PhD, BSc^2,3^*, Ben Carpenter, PhD⁶^*, Julie Curtin⁷, Jonathan Lambert, BmedSci, PhD, FRCP, FRCPath^6,8^*, Siobhan Burns^5,9^* and Graham John Lieschke, PhD, MBBS, FRACP^3,4

¹Department of Clinical Haematology, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, VIC, Australia
²University of Melbourne, Melbourne, Australia
³Clinical Haematology, Peter MacCallum Cancer Centre/Royal Melbourne Hospital, Melbourne, Australia
⁴Australian Regenerative Medicine Institute, Monash University, Melbourne, Australia
⁵Institute of Immunity and Transplantation, University College London, London, United Kingdom
⁶Department of Haematology, University College London Hospitals NHS Foundation Trust, London, United Kingdom
⁷The Children's Hospital at Westmead, Sydney, NSW, Australia
⁸Department of Haematology, UCL Cancer Institute, University College London, London, United Kingdom
⁹Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom

10:30 AM

413

Accumulation of Specific Somatic Leukemia-Associated Mutations in Congenital Neutropenia Precedes Malignant Transformation – New Preconditions for Treatment Decisions

Maksim Klimiankou, PhD¹^*, Sergey Kandabarau²^*, Cornelia Zeidler, MD³^*, Ingeborg Steiert²^*, Denys Pogozhykh, PhD³^*, David C. Dale, MD⁴, Karl Welte, Professor of Pediatrics, MD⁵ and Julia Skokowa, MD, PhD¹

¹Department of Hematology, Oncology, Clinical Immunology, University Hospital Tuebingen, Tuebingen, Germany
²Division of Translational Oncology, Department of Hematology, Oncology, Clinical Immunology, Rheumatology, University Hospital Tuebingen, Tuebingen, Germany
³SCNIR, Hannover Medical School, Hannover, Germany
⁴Department of Medicine, University of Washington, Seattle, WA
⁵Pediatric Hematology and Oncology, University Children Hospital Tuebingen, Tuebingen, Germany

10:45 AM

414

Pathogenic RUNX1 C-Terminal Truncation Mutations Contribute to Differentiation Block and Result in Unique Changes in Transcription and Chromatin Organization

Nathan Jayne, BSc^1,2, Mengdan Liu, BA^1,3, Benson Chen, PhD⁴^*, Zhengyu Liang, PhD⁴^*, Do-Hwan Lim, PhD⁴^*, Bing Ren, PhD^1,4^*, Xiang-Dong Fu, PhD^1,4^* and Dong-Er Zhang, PhD^1,2,4

¹School of Biological Sciences, University of California, San Diego, La Jolla, CA
²Moores Cancer Center, University of California, San Diego, La Jolla, CA
³Moores Cancer Center, University of California, San Diego, SAN DIEGO, CA
⁴School of Medicine, University of California, San Diego, La Jolla, CA

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^*signifies non-member of ASH

509.O1.6 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: From Biology to Therapeutics