Distinguishing constitutional from acquired bone marrow failure in the hematology clinic.
Aplastic anemia
Bone marrow failure
Cancer
Constitutional bone marrow failure
IBMFS
Inherited bone marrow failure syndromes
Myelodysplastic syndrome
Predisposition syndromes
Journal
Best practice & research. Clinical haematology
ISSN: 1532-1924
Titre abrégé: Best Pract Res Clin Haematol
Pays: Netherlands
ID NLM: 101120659
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
received:
02
05
2021
revised:
19
05
2021
accepted:
22
05
2021
entrez:
18
8
2021
pubmed:
19
8
2021
medline:
14
1
2022
Statut:
ppublish
Résumé
Distinguishing constitutional from immune bone marrow failure (BMF) has important clinical implications. However, the diagnosis is not always straightforward, and immune aplastic anemia, the commonest BMF, is a diagnosis of exclusion. In this review, we discuss a general approach to the evaluation of BMF, focusing on clinical presentations particular to immune and various constitutional disorders as well as the interpretation of bone marrow histology, flow cytometry, and karyotyping. Additionally, we examine the role of specialized testing in both immune and inherited BMF, and discuss genetic testing, both its role in patient evaluation and interpretation of results.
Identifiants
pubmed: 34404527
pii: S1521-6926(21)00040-2
doi: 10.1016/j.beha.2021.101275
pmc: PMC8374085
mid: NIHMS1712102
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
101275Subventions
Organisme : Intramural NIH HHS
ID : Z99 HL999999
Pays : United States
Informations de copyright
Published by Elsevier Ltd.
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