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New Scientific Discoveries

Symposia: Scientific Workshop on Germline Predisposition to Hematopoietic Malignancies and Bone Marrow Failure Program: Scientific Workshops
Friday, December 6, 2024: 4:06 PM-4:56 PM
Room 6CF (San Diego Convention Center)
Moderators:
Akiko Shimamura, MD, PhD, Boston Children's Hospital and Alejandro Ferrer, PhD, Mayo Clinic
Disclosures:
No relevant conflicts of interest to declare.
In this session, investigators will present results from emerging scientific studies and how the new knowledge is impacting clinical care.
Moderator Introduction

Akiko Shimamura, MD, PhD

Boston Children's Hospital, Boston, MA
Heterozygous Germline TET2 Loss Function Variants Predispose to Development of Nodular Lymphocyte Predominant Hodgkin Lymphoma

Sean Harrop

Royal Melbourne Hospital and Peter MacCallum Cancer Centre, Melbourne, VIC, Australia
Genetic Landscape and Clinical Correlates in 965 Individuals with Germline GATA2 Mutations

Lili Kotmayer, MD, PhD

St. Jude Children's Research Hospital, Memphis, TN
ANKRD26-Related Thrombocytopenia: Hematologic Malignancy Characteristics, Outcomes, and Precursor States

Lauren Banaszak, MD

University of Wisconsin-Madison, Madison, WI
Biallelic Germline Variants in SH2B3 Cause a Multisystem Developmental Disorder Characterized By a Transient Neonatal Myeloproliferative Disorder, Subsequent Thrombocytosis, and Autoimmune Manifestations in Childhood

Davide Leardini

Pediatric Hematology and Oncology, University of Bologna, Bologna, Italy
Divergent Clonal Populations Have Distinct Telomere Lengths in POT1 Mutation Carriers

Kristen E. Schratz, MD

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD; Johns Hopkins University School of Medicine, Baltimore, MD
Reduced-Toxicity Hematopoietic Stem Cell Therapies for Fanconi Anemia

Agnieszka D. Czechowicz, MD, PhD

Stanford University, Stanford, CA
Germline Pathogenic Variants in DNA Damage Response and Repair Genes and Their Impact on HCT Outcomes in 2008 Patients with Severe Aplastic Anemia, Myelofibrosis and Myelodysplastic Syndrome

Maryam Rafati, MD, PhD

National Cancer Institute, NIH, Rockville, MD
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