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Review
. 2022 Apr 30;57(S1):49-54.
doi: 10.5045/br.2022.2022012.

Overview of inherited bone marrow failure syndromes

Meerim Park  1
Affiliations
Review

Overview of inherited bone marrow failure syndromes

Meerim Park. Blood Res. .

Abstract

Patients with inherited bone marrow failure syndrome (IBMFS) can develop peripheral blood cytopenia, which can ultimately progress to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Although some cases of IBMFS are diagnosed based on their typical presentation, variable disease penetrance and expressivity may result in diagnostic dilemmas. With recent advances in genomic evaluation including next-generation sequencing, many suspected cases of IBMFS with atypical presentations can be identified. Identification of the genetic causes of IBMFS has led to important advances in understanding DNA repair, telomere biology, ribosome biogenesis, and hematopoietic stem cell regulation. An overview of this syndromes is summarized in this paper.

Keywords: DNA repair; Inherited bone marrow failure syndrome; Ribosome; Stem cell regulation; Telomere.

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Conflict of interest statement

Authors’ Disclosures of Potential Conflicts of Interest

No potential conflicts of interest relevant to this article were reported.

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