Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Oct 4;23(19):11765.
doi: 10.3390/ijms231911765.

Aplastic Anemia as a Roadmap for Bone Marrow Failure: An Overview and a Clinical Workflow

Antonio G Solimando  1 , Carmen Palumbo  1 , Mary Victoria Pragnell  2 , Max Bittrich  3 , Antonella Argentiero  4 , Markus Krebs  5   6
Affiliations
Review

Aplastic Anemia as a Roadmap for Bone Marrow Failure: An Overview and a Clinical Workflow

Antonio G Solimando et al. Int J Mol Sci. .

Abstract

In recent years, it has become increasingly apparent that bone marrow (BM) failures and myeloid malignancy predisposition syndromes are characterized by a wide phenotypic spectrum and that these diseases must be considered in the differential diagnosis of children and adults with unexplained hematopoiesis defects. Clinically, hypocellular BM failure still represents a challenge in pathobiology-guided treatment. There are three fundamental topics that emerged from our review of the existing data. An exogenous stressor, an immune defect, and a constitutional genetic defect fuel a vicious cycle of hematopoietic stem cells, immune niches, and stroma compartments. A wide phenotypic spectrum exists for inherited and acquired BM failures and predispositions to myeloid malignancies. In order to effectively manage patients, it is crucial to establish the right diagnosis. New theragnostic windows can be revealed by exploring BM failure pathomechanisms.

Keywords: aplastic anemia; bone marrow failure; bone marrow immune-microenvironment; cytopenia; hematopoietic stem cells.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Schematic diagnostic approach to bone marrow failure. HLA: human leukocyte antigen, MDS: myelodysplastic syndromes; PNH: paroxysmal nocturnal hemoglobinuria.
Figure 2
Figure 2
The pathobiological landscape and a schematic overview of aplastic anemia.
Figure 3
Figure 3
Schematic treatment selection and follow-up in AA. CSA: cyclosporine. HSCT: hematopoietic stem cell transplant. HLA: human leukocyte antigen. IST: immunosuppressive therapy. MSD: HLA-matched sibling donors.
See this image and copyright information in PMC

References

    1. Vaht K., Göransson M., Carlson K., Isaksson C., Lenhoff S., Sandstedt A., Uggla B., Winiarski J., Ljungman P., Brune M., et al. Incidence and Outcome of Acquired Aplastic Anemia: Real-World Data from Patients Diagnosed in Sweden from 2000–2011. Haematologica. 2017;102:1683–1690. doi: 10.3324/haematol.2017.169862. - DOI - PMC - PubMed
    1. Keel S.B., Scott A., Sanchez-Bonilla M., Ho P.A., Gulsuner S., Pritchard C.C., Abkowitz J.L., King M.-C., Walsh T., Shimamura A. Genetic Features of Myelodysplastic Syndrome and Aplastic Anemia in Pediatric and Young Adult Patients. Haematologica. 2016;101:1343–1350. doi: 10.3324/haematol.2016.149476. - DOI - PMC - PubMed
    1. Feurstein S., Drazer M.W., Godley L.A. Genetic Predisposition to Leukemia and Other Hematologic Malignancies. Semin. Oncol. 2016;43:598–608. doi: 10.1053/j.seminoncol.2016.10.003. - DOI - PubMed
    1. Iwafuchi H. The Histopathology of Bone Marrow Failure in Children. J. Clin. Exp. Hematop. 2018;58:68–86. doi: 10.3960/jslrt.18018. - DOI - PMC - PubMed
    1. Antonio G., Oronzo B., Vito L., Angela C., Antonel-la A., Roberto C., Giovanni S.A., Antonella L. Immune System and Bone Microenvironment: Rationale for Targeted Cancer Therapies. Oncotarget. 2020;11:480–487. doi: 10.18632/oncotarget.27439. - DOI - PMC - PubMed