The recognition of hereditary hematopoietic malignancy syndromes (HHMs) - hereditary blood cancers that adhere to Mendelian inheritance patterns - has increased since the advent of relatively inexpensive next generation sequencing during the 2010s and 2020s. A number of significant gaps in the field, however, continue to exist. These gaps include (1) inconsistent approaches to the evaluation and diagnosis of patients at risk for HHMs; (2) the care of patients with HHM-related germline mutations who have not developed malignancies (unaffected, but at risk, carriers); (3) personalizing the care of HHM patients with germline mutations who have developed malignancies (affected carriers); (4) the evaluation of HHM patients in the context of hematopoietic stem and progenitor cell transplant; (5) gaps in insurance coverage for genetic testing of patients who are at risk for HHMs.
This Research Topic aims to address recent scientific and clinical advances in the field of HHMs, while also addressing the aforementioned knowledge gaps. Potential manuscript themes include:
- recently discovered HHMs during the past 5 years
- recent advances in knowledge of the natural history of patients at risk for HHMs (clonal hematopoiesis, cancer risk, syndromic and non-malignant phenotypes)
- recent advances in the development of HHM-related international databases
- recent advances in the modelling (murine, cellular, and other) of HHMs
- recent advances in the recognition and diagnosis of HHMs
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.
Dr. Michael Drazer discloses consulting fees for Argenx regarding development of immune thrombocytopenia therapies.
The recognition of hereditary hematopoietic malignancy syndromes (HHMs) - hereditary blood cancers that adhere to Mendelian inheritance patterns - has increased since the advent of relatively inexpensive next generation sequencing during the 2010s and 2020s. A number of significant gaps in the field, however, continue to exist. These gaps include (1) inconsistent approaches to the evaluation and diagnosis of patients at risk for HHMs; (2) the care of patients with HHM-related germline mutations who have not developed malignancies (unaffected, but at risk, carriers); (3) personalizing the care of HHM patients with germline mutations who have developed malignancies (affected carriers); (4) the evaluation of HHM patients in the context of hematopoietic stem and progenitor cell transplant; (5) gaps in insurance coverage for genetic testing of patients who are at risk for HHMs.
This Research Topic aims to address recent scientific and clinical advances in the field of HHMs, while also addressing the aforementioned knowledge gaps. Potential manuscript themes include:
- recently discovered HHMs during the past 5 years
- recent advances in knowledge of the natural history of patients at risk for HHMs (clonal hematopoiesis, cancer risk, syndromic and non-malignant phenotypes)
- recent advances in the development of HHM-related international databases
- recent advances in the modelling (murine, cellular, and other) of HHMs
- recent advances in the recognition and diagnosis of HHMs
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.
Dr. Michael Drazer discloses consulting fees for Argenx regarding development of immune thrombocytopenia therapies.