66th ASH Annual Meeting: 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Clinical and Translational Insights from Patients and Models

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

Research, Clinical trials, Acute Myeloid Malignancies, AML, Fundamental Science, Translational Research, Epidemiology, Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, CHIP, Clinical Research, Genetic Disorders, Aplastic Anemia, Genomics, Diseases, Treatment Considerations, Biological therapies, Registries, Non-Biological therapies, Myeloid Malignancies, Biological Processes, Molecular biology, Study Population, Human, Transplantation (Allogeneic and Autologous)

Room 11 (San Diego Convention Center)

Moderators:

Madhavi Lakkaraja, MD, MPH, Memorial Sloan Kettering Cancer Center and Fernanda Gutierrez-Rodrigues, PhD, National Institute of Health

Disclosures:

No relevant conflicts of interest to declare.

This session will feature novel clinical and translational findings related to inherited bone marrow failure and cancer predisposition syndromes.

9:30 AM

439

Danazol Treatment for Telomere Biology Disorders: Long-Term Results of a Phase I/II Study

Nicholas C. Lee, MD¹, Fernanda Gutierrez-Rodrigues, PhD¹, Ruba Shalhoub²^*, Tania Rene Machado, RN, BSN³^*, Jennifer Lotter, ms¹, Lemlem Alemu¹^*, Diego Quinones Raffo, BS¹^*, Geraldine Aubert, PhD⁴^*, Colin O. Wu, PhD²^*, Bhavisha A. Patel, MD¹, Neal S. Young, MD¹ and Emma M. Groarke, MD¹

¹Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD
²Office of Biostatistics Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD
³Office of Research Nurses, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD
⁴Repeat Dx, North Vancouver, Canada

9:45 AM

440

Prevalence and Clinical Features of Non-Myeloid Neoplasms in Patients with DDX41 Mutant Germline Predisposition Syndrome

Yael Kusne, MD, PhD¹, Talha Badar, MD², Terra L. Lasho, PhD³, Ludovica Marando, MD, PhD⁴, Abhishek A. Mangaonkar, MBBS⁵, Christy Finke, BS³^*, James M. Foran, MD⁶, Aref Al-Kali, MD⁵, Hassan B Alkhateeb, MD³^*, Naseema Gangat, MBBS³, Jeanne Palmer, MD⁷, David Viswanatha, MD⁸, Mark R. Litzow, MD³, Timothy Chlon, PhD⁹, Alejandro Ferrer, PhD⁵ and Mrinal M. Patnaik, MD, MBBS⁵

¹Mayo Clinic, Phoenix, AZ
²Department of Hematology/Oncology, Mayo Clinic, Jacksonville, FL
³Division of Hematology, Mayo Clinic, Rochester, MN
⁴Mayo Clinic, Rochester
⁵Mayo Clinic, Rochester, MN
⁶Division of Hematology & Medical Oncology, Mayo Clinic, Jacksonville, FL
⁷Mayo Clinic - Arizona, Scottsdale, AZ
⁸Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester
⁹Cincinnati Children's Hospital Medical Center, Cincinnati, OH

10:00 AM

441

Outcomes of Hematopoietic Stem Cell Transplantation for High-Risk Marrow Features without Malignancy in Shwachman-Diamond Syndrome

Felicia Andresen, MD¹, Jie He, MS²^*, Edie Weller, PhD²^*, Ben Goldberg, MS²^*, Christopher R. Reilly, MD³, Taizo A. Nakano, MD⁴, Alison A. Bertuch, MD, PhD^5,6, Amy E. Geddis, MD, PHD⁷^*, Margret Joos¹^*, Katherine Coyne¹^*, Karyn Brundige, MSN, CPNP¹^*, Sara Loveless⁸^*, Leah Cheng¹^*, Kasiani C Myers, MD^8,9 and Akiko Shimamura, MD, PhD¹⁰

¹Department of Pediatric Hematology/Oncology, Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA
²Biostatistics and Research Design Center at BCH and Department of Pediatrics at Harvard Medical School, Boston, MA
³Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA
⁴Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, CO
⁵Texas Children's Hospital, Houston, TX
⁶Department of Pediatrics, Division of Hematology/Oncology, Baylor College of Medicine, Houston, TX
⁷Cancer and Blood Disorders Center, Seattle Children's Hospital, Seattle, WA
⁸Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH
⁹Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH
¹⁰Boston Children's Hospital, Boston, MA

10:15 AM

442

Hematological Phenotypes in GATA2 Deficiency Syndrome Arise from Secondary Injuries and Maladaptation to Proliferation

Juncal Fernandez Orth, PhD^1,2^*, Cansu Koyunlar³^*, Julia Miriam Weiss, PhD¹^*, Emanuele Gioacchino³^*, Hans De Looper³^*, Geoffroy Andrieux, PhD⁴^*, Mariëtte Ter Borg³^*, Joke Zink³^*, Irene Gonzalez-Menendez^5,6^*, Remco Hoogenboezem, MSc⁷^*, Baris Yigit¹^*, Kirsten Gussinklo³^*, Roger Mulet-Lazaro, PhD⁷^*, Marc Raaijmakers, MD³, Irene Gonzalez Menendez⁵^*, Charlotte Wantzen¹^*, Sophie Pfeiffer¹^*, Christian Molnar¹^*, Eric Bindels³^*, Sheila Bohler¹^*, Mathijs Arnoud Sanders, PhD³^*, Leticia Quintanilla-Fend, MD^5,6, Marcin Wlodarski, MD, PhD^1,8, Melanie Boerries, MD, PhD^4,9^*, Ivo Paul Touw, PhD³, Charlotte Marie Niemeyer, MD¹⁰, Miriam Erlacher^11,12 and Emma De Pater, PhD³^*

¹Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University Medical Center Freiburg, Germany, Freiburg, Germany
²Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany, Ulm, Germany
³Department of Hematology, Erasmus Medical Center Cancer Institute, Rotterdam, Netherlands
⁴Institute of Medical Bioinformatics and Systems Medicine, Medical Center, Freiburg, Germany
⁵Institute of Pathology and Neuropathology and Comprehensive Cancer Center Tübingen, Eberhard-Karls-University, Tübingen, Germany
⁶Cluster of Excellence iFIT (EXC2180) "Image-Guided and Functionally Instructed Tumor Therapies", Eberhard-Karls-University, Tübingen, Germany
⁷Department of Hematology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, Netherlands
⁸St. Jude Children's Research Hospital, Memphis, TN
⁹German Cancer Consortium (DKTK), Medical Center Freiburg, Freiburg, Germany
¹⁰Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University Medical Center Freiburg, Germany, Freiburg, Baden Württemberg, Germany
¹¹Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Freiburg, Germany
¹²Section experimental Pediatric Oncology, Department of Pediatrics and Adolescent Medicine, Ulm, Germany

10:30 AM

443

Engineered Telomerase RNA Component (eTERC), a Potential Lncrna Medicine to Extend Replicative Lifespan and Telomere Length in Dyskeratosis Congenita Patient Stem Cells

Neha Nagpal, PhD^1,2,3^* and Suneet Agarwal, MD, PhD^1,2,3

¹Hematology/Oncology, Stem Cell Program, and Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA
²Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA
³Pediatrics, Harvard Medical School, Boston, MA

10:45 AM

444

Genome-First Determination of the Prevalence and Penetrance of Eight Germline Myeloid Malignancy Predisposition Genes: A Study of Two Population-Based Cohorts

Rachel M Hendricks, BS¹^*, Jung Kim, PhD¹^*, Jeremy S Haley, MS²^*, Mark Louie Ramos, PhD³^*, Uyenlinh L Mirshahi, PhD²^*, David J Carey, PhD²^*, Douglas R Stewart, MD¹^* and Lisa J McReynolds, MD, PhD¹

¹Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD
²Department of Molecular and Functional Genomics, Department of Genomic Health, Weis Center for Research, Geisinger Medical Center, Danville, PA
³Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD

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^*signifies non-member of ASH

509.O1.6 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Clinical and Translational Insights from Patients and Models