denotes an abstract that is clinically relevant.
denotes that this is a recommended PHD Trainee Session.
denotes that this is a ticketed session.Hematology Disease Topics & Pathways:
Research, Acute Myeloid Malignancies, AML, clinical trials, Clinical Practice (Health Services and Quality), Bone Marrow Failure Syndromes, Inherited Marrow Failure Syndromes, Translational Research, epidemiology, Genetic Disorders, Aplastic Anemia, Clinical Research, Diseases, Immune Disorders, immunodeficiency, real-world evidence, neutropenia, white blood cell disorders, registries, Myeloid Malignancies, Study Population
Description:
Inherited bone marrow failure syndromes are a complex set of disorders characterized by single or multilineage cytopenias and elevated risk of hematopoietic and other malignancies. Patients may present with classic phenotypes, such dysmorphology in Fanconi anemia, but the increased use of germline genetic testing and other diagnostics have led to a growing appreciation of a wide spectrum of IBMFS clinical phenotypes and ages at onset ranging from children to adults. This educational session will explore the clinical manifestations, genetic etiologies, and new avenues for the management of severe congenital neutropenia, Fanconi anemia, and telomere biology disorders.
Dr. Jean Donadieu will discuss therapeutic options for severe congenital neutropenias (SCNs) beyond granulocyte colony stimulating factor (GCSF) and hematopoietic cell transplantation. This talk will describe the rational for the use of inhibitor of sodium glucose cotransporter (ISGTL2), an anti-diabetic drug, in glycogen-storage disease type-IB and glucose-6-phosphatase catalytic subunit-3 (G6PC3) neutropenias and a potential role of C-X-C chemokine-receptor-4 inhibitors in warts, hypoglobulinemia, infections and myelokathexis (WHIM) syndrome. It will also discuss the concept of stimulating somatic genetic rescue, a physiological process that might limit the risk of leukemic transformation, like EIF6 inhibitors in Shwachman Diamond Syndrome.
Dr. Carlo Dufour will focus on modern management of Fanconi Anemia and its clinical complications starting with presenting a case report that outlines the importance of a long-term specific monitoring plan in this setting. The talk will outline monitoring strategies tailored to timely detect hematological complications in order to perform hematopoietic cell transplantation (HCT) in optimal conditions. The most recently adopted HCT platforms will be discussed. This talk will also address surveillance approaches to identify early cancers, especially epithelial cancers of head and neck and urogenital regions, that currently have no satisfactory treatment.
Dr. Sharon Savage will discuss the numerous genetic discoveries and the advent of clinical telomere length testing that have led to the recognition of a spectrum of telomere biology disorders (TBDs), beyond classic dyskeratosis congenita (DC). While hematopoietic cell transplantation and androgen therapy are effective for bone marrow failure in TBDs, there is a paucity of options for the other manifestations, such as pulmonary fibrosis, liver disease or cancer. This talk will highlight areas in need of additional clinical and basic science research while providing the background for clinical diagnosis and management.
Dr. Jean Donadieu will discuss therapeutic options for severe congenital neutropenias (SCNs) beyond granulocyte colony stimulating factor (GCSF) and hematopoietic cell transplantation. This talk will describe the rational for the use of inhibitor of sodium glucose cotransporter (ISGTL2), an anti-diabetic drug, in glycogen-storage disease type-IB and glucose-6-phosphatase catalytic subunit-3 (G6PC3) neutropenias and a potential role of C-X-C chemokine-receptor-4 inhibitors in warts, hypoglobulinemia, infections and myelokathexis (WHIM) syndrome. It will also discuss the concept of stimulating somatic genetic rescue, a physiological process that might limit the risk of leukemic transformation, like EIF6 inhibitors in Shwachman Diamond Syndrome.
Dr. Carlo Dufour will focus on modern management of Fanconi Anemia and its clinical complications starting with presenting a case report that outlines the importance of a long-term specific monitoring plan in this setting. The talk will outline monitoring strategies tailored to timely detect hematological complications in order to perform hematopoietic cell transplantation (HCT) in optimal conditions. The most recently adopted HCT platforms will be discussed. This talk will also address surveillance approaches to identify early cancers, especially epithelial cancers of head and neck and urogenital regions, that currently have no satisfactory treatment.
Dr. Sharon Savage will discuss the numerous genetic discoveries and the advent of clinical telomere length testing that have led to the recognition of a spectrum of telomere biology disorders (TBDs), beyond classic dyskeratosis congenita (DC). While hematopoietic cell transplantation and androgen therapy are effective for bone marrow failure in TBDs, there is a paucity of options for the other manifestations, such as pulmonary fibrosis, liver disease or cancer. This talk will highlight areas in need of additional clinical and basic science research while providing the background for clinical diagnosis and management.