Mechanisms of somatic transformation in inherited bone marrow failure syndromes-Reference-Cited by-同舟云学术

Mechanisms of somatic transformation in inherited bone marrow failure syndromes

Published:2021-12-10 Issue:1 Volume:2021 Page:390-398
ISSN:1520-4391
Container-title:Hematology
language:en
Short-container-title:

Author:

Choijilsuren Haruna Batzorig¹²,Park Yeji¹,Jung Moonjung¹

Affiliation:

1. Division of Hematology, Department of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD

2. Department of Molecular and Cellular Biology, Krieger School of Arts and Sciences, Johns Hopkins University, Baltimore, MD

Abstract

Abstract Inherited bone marrow failure syndromes (IBMFS) cause hematopoietic stem progenitor cell (HSPC) failure due to germline mutations. Germline mutations influence the number and fitness of HSPC by various mechanisms, for example, abnormal ribosome biogenesis in Shwachman-Diamond syndrome and Diamond-Blackfan anemia, unresolved DNA cross-links in Fanconi anemia, neutrophil maturation arrest in severe congenital neutropenia, and telomere shortening in short telomere syndrome. To compensate for HSPC attrition, HSPCs are under increased replication stress to meet the need for mature blood cells. Somatic alterations that provide full or partial recovery of functional deficit implicated in IBMFS can confer a growth advantage. This review discusses results of recent genomic studies and illustrates our new understanding of mechanisms of clonal evolution in IBMFS.

Publisher

American Society of Hematology

Subject

Hematology

Link

https://ashpublications.org/hematology/article-pdf/2021/1/390/1852164/390choijilsuren.pdf

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