-Author name in bold denotes the presenting author
-Asterisk * with author name denotes a Non-ASH member
Clinically Relevant Abstract denotes an abstract that is clinically relevant.

PhD Trainee denotes that this is a recommended PHD Trainee Session.

Ticketed Session denotes that this is a ticketed session.

509.P1.26 509. Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital: Poster I

Symposia: Bone Marrow Failure and Cancer Predisposition Syndromes: Congenital Program: Oral and Poster Abstracts
Type: Poster
Saturday, December 7, 2024: 5:30 PM-7:30 PM
Halls G-H (San Diego Convention Center)

Erica Bresciani, PhD1*, Bian J Capaldo2*, Amra Kajdic1*, Natalie T. Deuitch, MS1*, Kathleen Craft1*, Shawn Chong1*, Abdel G. Elkahloun, PhD3*, Morgan Park4*, Alice Young4*, David J. Young, MD, PhD5, Daoud Meerzaman2*, Qingrong Chen2* and Paul P. Liu, MD, PhD1

1Oncogenesis and Development Section, National Human Genome Research Institute, NIH, Bethesda, MD
2Computational Genomics & Bioinformatics Branch, National Cancer Institute, NIH, Bethesda, MD
3Microarrays and Single-Cell Genomics Core, National Human Genome Research Institute, NIH, Bethesda, MD
4NIH Intramural Sequencing Center, National Human Genome Research Institute, Bethesda, MD
5Translational Stem Cell Biology Branch, National Heart, Lung, and Blood Institute, National Institute of Health, Bethesda, MD

Mabel M. Jung1, Koichi R. Katsumura1, Siqi Shen2*, Vu L. Tran1, Peng Liu2*, Kirby D. Johnson1*, Sunduz Keles2* and Emery H. Bresnick1

1Wisconsin Blood Cancer Research Institute, Department of Cell and Regenerative Biology, University of Wisconsin School of Medicine and Public Health, Madison, WI
2UW Carbone Cancer Center, Department of Biostatistics and Biomedical Informatics, University of Wisconsin School of Medicine and Public Health, Madison, WI

Enrica Quattrocchi, MD1*, Eva M. Carmona Porquera, MD2*, Alejandro Diaz Arumir Vergara3*, Ana C. Zamora, MD3*, Laura Ongie, MS1*, Kristen B. McCullough, PharmD4, Brittany Burnap1*, Jenna A. Fernandez, PhD4, Doug A. Simonetto, MD5*, Patrick S. Kamath, MD5*, Avni Joshi, MD6*, Mark E. Wylam, M.D.7*, Cassie C. Kennedy, MD1*, Terra L. Lasho, PhD1, Christy Finke, BS4*, Rachel A. Simon4*, Mrinal M. Patnaik, MD, MBBS4, Alejandro Ferrer, PhD1 and Abhishek A. Mangaonkar, MBBS4

1Mayo Clinic, Rochester, MN
2Division of Pulmonary Medicine, Mayo Clinic, Rochester, MN
3Division of Pulmonary Medicine, Mayo Clinic, Arizona, AZ
4Division of Hematology, Mayo Clinic, Rochester, MN
5Division of Gastroenterology, Mayo Clinic, Rochester, MN
6Pediatric Allergy and Immunology, Mayo Clinic, Rochester, MN
7Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN

Erika Massaccesi, MD, PhD1*, Luca Arcuri1*, Giacomo Cavalca2,3*, Fabian Beier, MD4*, Michela Lupia1*, Davide Cangelosi2*, Alice Grossi5*, Marina Lanciotti1*, Filomena Pierri6*, Francesca Fioredda, MD1*, Maurizio Miano1*, Gianluca Dell'Orso1,7*, Maria Carla Giarratana1*, Daniela Guardo1*, Lucia Vankann8*, Francesca Bagnasco9*, Isabella Ceccherini5*, Paolo Uva2*, Tim H. H. Brummendorf, MD4 and Carlo Dufour, MD1

1Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy
2Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy
3University of Bologna, Bologna, Italy
4Department of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Germany, Aachen, Germany
5Laboratory of Genetics and Genomics of Rare Diseases, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy
6Hematopoietic Stem Cell Transplantation Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genova, Italy
7Haematology Unit IRCCS Gaslini Children Hospital, Genoa, Italy
8Department of Hematology, Oncology, Hemostaseology, and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany
9Biostatistics Unit, Scientific Directorate, IRCCS Istituto Giannina Gaslini, Genoa, Italy, Genoa, Italy

Christopher Haddad, BS1*, Luca Guarnera, MD1,2*, Yasuo Kubota, MD, PhD1*, Carlos Bravo-Perez, MD1,3*, Carmelo Gurnari, MD, PhD1,2, Olisaemeka Ogbue, MBBS1, Arda Durmaz, PhD1*, Serhan Unlu, MD1, Aashray Mandala, BS1*, Mark Orland, MD1, Zachary Brady1*, Kartik Lakhotiya, MS1*, Matteo D'Addona1*, Ishani Nautiyal, BS1*, David S. Bosler, MD4*, Hetty E. Carraway, MD, MBA5, Yogen Saunthararajah, MD1, Valeria Visconte, PhD1 and Jaroslaw Maciejewski1

1Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH
2Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy
3Department of Hematology and Medical Oncology, Hospital Universitario Morales Meseguer, University of Murcia, IMIB-Pascual Parrilla, CIBERER - Instituto de Salud Carlos III, Murcia, Spain
4Department of Pathology and Laboratory Medicine, Cleveland Clinic Diagnostics Institute, Cleveland, OH
5Department of Hematology and Medical Oncology, Cleveland Clinic Taussig Cancer Institute, Cleveland, OH

Nicolas Lecornec1*, Flore Sicre de Fontbrune, MD2*, Loïc Garçon3*, Edouard Forcade, MD, PhD4*, Louis Terriou, M.D5*, Isabelle Marie6*, Régis Peffault de Latour, MD, PhD7*, Jean-Hugues Dalle, MD, PHD8, Lydie Da Costa9,10,11* and Thierry Leblanc12,13*

1Department of Pediatric Hematology and Immunology, Hôpital Universitaire Robert Debré, Assistance Publique-Hôpitaux de Paris (AP-HP) and Université Paris Cité, Paris, France
2Hematology and Transplant Unit, Saint Louis Hospital, APHP, Paris, France
3Laboratoire d'Hématologie, CHU Amiens, Le Kremlin Bicêtre, France
4CHU Bordeaux, Pessac, France
5Service de Médecine Interne et Immunologie Clinique, Centre de référence des maladies autoimmunes systémiques rares du Nord et Nord-Ouest de France, Univ. Lille, Inserm, CHU Lille, Lille, France
6Laboratory of Hematology, Hôpital Universitaire Robert Debré́, AP-HP and Université Paris Cité, Paris, France
7BMT unit, Hôpital Saint-Louis,, Paris, France
8Department of Pediatric Hematology and Immunology, Robert-Debré Academic Hospital ,, Assistance Publique des Hôpitaux de Paris (APHP), Paris, France
9HEMATIM UR4666, Université de Picardie Jules Verne, Amiens, France
10Laboratory of Excellence for Red Cells, LABEX GR-Ex, Paris, France
11Service d'Hématologie Biologique (Hematology Diagnostic Lab), AP-HP, Hôpital R. Debré, Paris, France
12Service d’Hematologie et d’Immunologie Pédiatrique, Centre de Reference Aplasies Medullaires Acquises et Constitutionnelles, Hôpital Robert-Debré, Assistance Publique Hôpitaux de Paris and Université Paris Cité, Paris, France
13Hopital Universitaire Robert-Debré, Paris, France

Flavia S. Donaires, PhD1*, Sophie de Tocqueville, PhD2*, Marilia Bazzo Catto, MD1*, Luiz Fernando Bazzo Catto, MD3, Emma M. Groarke, MD4, Barbara A. Santana, PhD5*, Settara C Chandrasekharappa, PhD6*, Frank X. Donovan7*, Carine Halfon-Domenech, MD8*, Neal S. Young, MD4, Caroline Kannengiesser9*, Rodrigo T. Calado, MD, PhD10, Patrick Revy, PhD11* and Fernanda Gutierrez-Rodrigues, PhD4

1Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil
2Laboratory Of Genome Dynamics in the Immune System, Labellisé Ligue Nationale contre le Cancer, Imagine Institute, Paris, France
3Translational Stem Cell Biology Branch, National Heart, Lung and Blood Institute, Ribeirão Preto, Brazil
4Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD
5Ribeirão Preto Medical School, University of São Paulo, Department of Medical Imaging, Hematology, and Oncology, Ribeirão Preto, Brazil
6Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
7Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda
8Institut D'Hématologie Et D'Oncologie Pédiatrique, Lyon, France
9Assistance Publique-hôPitaux De Paris, Bichat, Paris, FRA
10Department of Hematology and Clinical Oncology, University of São Paulo, Riberão Preto, Brazil
11Institut Imagine, Paris, FRA

Arti S. Pandey, PhD1*, Roya Mostafavi, MS CGC2*, Sara Lewis, MS, CGC3*, Rose McGee, MS CGC1*, Alise Blake, MS CGC1*, Stacy Hines-Dowell, DNP1*, Leslie Taylor, RN BSN1*, LilyAnne Grieve, MS CGC1*, Melissa Perrino, MD1*, Brandon M Triplett, MD4* and Kim E. Nichols, MD5

1Oncology, Division of Cancer Predisposition, St. Jude Children’s Research Hospital, Memphis, TN
2Le Bonheur Children's Hospital, Memphis, TN
3Department of Hematology, St. Jude Children's Research Hospital, Memphis, TN
4Department of Bone Marrow Transplantation and Cellular Therapy, St. Jude Children's Research Hospital, Memphis, TN
5Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, TN

Carmelo Gurnari, MD, PhD1,2, Hideki Makishima, MD, PhD3, Arda Durmaz, PhD4*, Enrico Attardi, MD1*, Ryunosuke Saiki, MD, PhD5*, Alex Bataller, MD, PhD6*, Guilherme Mendes Sapinho, MD7,8*, Lukasz P. Gondek, MD, PhD9, Yasuhito Nannya, MD, PhD10, Steve Best7*, Pramila Krishnamurthy, MD11*, Kar Lok Kong12*, Yoshiko Atsuta13*, Senji Kasahara, MD, PhD14, Kazuma Ohyashiki, MD, PhD15*, Yasushi Miyazaki, MD, PhD16, Nobuhiro Kanemura, MD, PhD17, Nobuhiro Hiramoto, MD, PhD18*, Hussein Awada19, Valeria Visconte, PhD19, Courtney D. DiNardo, MD, MSc6, Maria Teresa Voso, MD1, Amy E. DeZern, MD, MHS20, Guillermo Garcia-Manero, MD6, Austin G. Kulasekararaj, MD, MBBS, FRCPath, MRCP21, Jaroslaw Maciejewski19 and Seishi Ogawa, MD, PhD22

1Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy
2Cleveland Clinic Foundation, Cleveland, OH
3Department of Hematology and Medical Oncology, Shinshu University, Matsumoto, Japan
4Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic Foundation, CLEVELAND, OH
5Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan
6Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX
7Department of Haematological Medicine, King's College Hospital NHS, London, United Kingdom
8Serviço de Hematologia e Transplantação de Medula, Centro Hospitalar Lisboa Norte, Lisbon, Portugal
9Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD
10Department of Pathology and Tumor Biology, Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan
11Dept. of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, United Kingdom
12SE-HMDS, King's College Hospital, Synnovis, London, United Kingdom
13Department of Registry Science for Transplant and Cellular Therapy, Aichi Medical University, Nagakute, Japan
14Department of Hematology, Gifu Municipal Hospital, Gifu, Japan
15Tokyo Medical University, Tokyo, JPN
16Department of Hematology, Nagasaki University Hospital, Nagasaki, Japan
17Department of Hematology and Infectious Disease, Gifu University Hospital, Gifu, Japan
18Department of Hematology, Kobe City Medical Center General Hospital, Kobe, Japan
19Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH
20Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD
21King’s College Hospital-NHS Foundation Trust, NIHR/Wellcome King’s Clinical Research Facility, and King’s College London, London, United Kingdom
22Kyoto University, Sakyoku, KYO, Japan

*signifies non-member of ASH