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Review
. 2014 Jul;19(7):735-45.
doi: 10.1634/theoncologist.2014-0056. Epub 2014 Jun 4.

The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failure

Amy E DeZern  1 , Mikkael A Sekeres  2
Affiliations
Review

The challenging world of cytopenias: distinguishing myelodysplastic syndromes from other disorders of marrow failure

Amy E DeZern et al. Oncologist. 2014 Jul.

Abstract

Over the past decade, our understanding of bone marrow failure has advanced considerably. Marrow failure encompasses multiple overlapping diseases, and there is increasing availability of diagnostic tools to distinguish among the subtypes. Identification of genetic alterations that underlie marrow failure has also greatly expanded, especially for myelodysplastic syndromes. Molecular markers are increasingly used to guide the management of myelodysplasia and may distinguish this diagnosis from other marrow failure disorders. This review summarizes the current state of distinguishing among causes of marrow failure and discusses the potential uses of multiple diagnostic and prognostic indicators in the management of myelodysplastic syndromes and other bone marrow failure disorders.

Keywords: Aplastic anemia; Bone marrow failure; Large granular leukemia; Molecular markers; Myelodysplastic syndrome; PNH; SNP array.

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Conflict of interest statement

Disclosures of potential conflicts of interest may be found at the end of this article.

Figures

Figure 1.
Figure 1.
Overlap of bone marrow failure syndromes. Abbreviations: AA, aplastic anemia; hMDS, hypocellular myelodysplastic syndromes; IBMFS, inherited bone marrow failure syndromes; LGL, large granular lymphocytosis; MDS, myelodysplastic syndromes; MPN, myeloproliferative neoplasm; PNH, paroxysmal nocturnal hemoglobinuria; PRCA, pure red cell aplasia.
Figure 2.
Figure 2.
Algorithm for diagnosing bone marrow failure conditions. Abbreviations: BFU-E, burst forming unit erythroid; flow-FISH, flow cytometry with fluorescence in situ hybridization; IBMFS, inherited bone marrow failure syndromes; LGL, large granular lymphocytosis; MDS, myelodysplastic syndromes; MPN, myeloproliferative neoplasm; PNH, paroxysmal nocturnal hemoglobinuria; SNP, single-nucleotide polymorphism.
See this image and copyright information in PMC

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