Bone marrow failure (BMF) syndromes are heterogeneous genetic disorders that have recently been recognized as a distinct class of cancer predisposition. Recently, basic research and clinical studies have focused on understanding and targeting these genetic alterations, uncovering their clinical outcomes, and elucidating the underlying mechanisms for hematopoietic neoplasms predisposition. These efforts have facilitated a more precise definition of these disorders and have not only helped define the etiological and pathological nature of this group of diseases, but also exposed novel biological aspects associated with these disorders, such as DNA-damage in Fanconi Anemia, ribosome biogenesis in Diamond-Blackfan anemia, and telomere biology disorders. Most recently myeloid neoplasms with germline predisposition of genes including GATA2, CEBPA, DDX41, RUNX1, ANKRD26, ETV6, SAMD9, SAMD9L, and ERCC6L2 were recognized as a class of hereditary blood disorders, and have been associated with features of BMF.
For this special collection, we invite a blend of basic and clinical translational research expanding our knowledge of the causes and mechanisms of BMF syndromes and how they predispose to leukemia. In particular, we will welcome articles that model disease progression and the impact on native hematopoiesis, and/or identify novel therapeutic targets. Furthermore, we invite manuscripts on, but not limited to, the following topics:
• Translational preclinical models of germline predisposition genes syndrome that enhance our understanding of disease progression.
• Genomic studies that uncover the clinical evolution and trajectories of clonal hematopoiesis in BMF syndromes.
• Functional and mechanistic insights of inherited BMF syndromes leading to the development of leukemia.
• Elucidation of the role of the bone marrow niche and/or inflammation in BMF pathogenesis.
• Case studies and clinical assessments advancing our understanding of the pathophysiology and etiology of BMF.
• Identification of novel therapeutics with an emphasis on advances in gene therapy, small molecule targeted therapy, and immunologic approaches.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.
Bone marrow failure (BMF) syndromes are heterogeneous genetic disorders that have recently been recognized as a distinct class of cancer predisposition. Recently, basic research and clinical studies have focused on understanding and targeting these genetic alterations, uncovering their clinical outcomes, and elucidating the underlying mechanisms for hematopoietic neoplasms predisposition. These efforts have facilitated a more precise definition of these disorders and have not only helped define the etiological and pathological nature of this group of diseases, but also exposed novel biological aspects associated with these disorders, such as DNA-damage in Fanconi Anemia, ribosome biogenesis in Diamond-Blackfan anemia, and telomere biology disorders. Most recently myeloid neoplasms with germline predisposition of genes including GATA2, CEBPA, DDX41, RUNX1, ANKRD26, ETV6, SAMD9, SAMD9L, and ERCC6L2 were recognized as a class of hereditary blood disorders, and have been associated with features of BMF.
For this special collection, we invite a blend of basic and clinical translational research expanding our knowledge of the causes and mechanisms of BMF syndromes and how they predispose to leukemia. In particular, we will welcome articles that model disease progression and the impact on native hematopoiesis, and/or identify novel therapeutic targets. Furthermore, we invite manuscripts on, but not limited to, the following topics:
• Translational preclinical models of germline predisposition genes syndrome that enhance our understanding of disease progression.
• Genomic studies that uncover the clinical evolution and trajectories of clonal hematopoiesis in BMF syndromes.
• Functional and mechanistic insights of inherited BMF syndromes leading to the development of leukemia.
• Elucidation of the role of the bone marrow niche and/or inflammation in BMF pathogenesis.
• Case studies and clinical assessments advancing our understanding of the pathophysiology and etiology of BMF.
• Identification of novel therapeutics with an emphasis on advances in gene therapy, small molecule targeted therapy, and immunologic approaches.
Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.