Article ; Online: When to worry about inherited bone marrow failure and myeloid malignancy predisposition syndromes in the setting of a hypocellular marrow.
Hematology. American Society of Hematology. Education Program
2021 Volume 2021, Issue 1, Page(s) 153–156
Abstract: With our increasing understanding of inherited marrow failure and myeloid malignancy predisposition syndromes, it has become clear that there is a wide phenotypic spectrum and that these diseases must be considered in the differential diagnosis of both ... ...
| Abstract | With our increasing understanding of inherited marrow failure and myeloid malignancy predisposition syndromes, it has become clear that there is a wide phenotypic spectrum and that these diseases must be considered in the differential diagnosis of both children and adults with unexplained defects in hematopoiesis. Moreover, these conditions are not as rare as previously believed and may present as aplastic anemia, myelodysplastic syndrome, or malignancy over a range of ages. Establishing the correct diagnosis is essential because it has implications for treatment, medical management, cancer screening, and family planning. Our goal is to highlight insights into the pathophysiology of these diseases, review cryptic presentations of these syndromes, and provide useful references for the practicing hematologist. |
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| MeSH term(s) | Anemia, Aplastic/diagnosis ; Anemia, Aplastic/genetics ; Bone Marrow Failure Disorders/congenital ; Bone Marrow Failure Disorders/diagnosis ; Bone Marrow Failure Disorders/genetics ; Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Myelodysplastic Syndromes/diagnosis ; Myelodysplastic Syndromes/genetics ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics |
| Language | English |
| Publishing date | 2021-12-22 |
| Publishing country | United States |
| Document type | Journal Article ; Review |
| ZDB-ID | 2084287-9 |
| ISSN | 1520-4383 ; 1520-4391 |
| ISSN (online) | 1520-4383 |
| ISSN | 1520-4391 |
| DOI | 10.1182/hematology.2021000246 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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