Mechanisms of somatic transformation in inherited bone marrow failure syndromes

被引：17
|
作者：
Choijilsuren, Haruna Batzorig [1 ,2 ]
Park, Yeji [1 ]
Jung, Moonjung [1 ]
机构：
[1] Johns Hopkins Univ, Sch Med, Dept Med, Div Hematol, 720 Rutland Ave,Ross Res Bldg,Room 1032B, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Krieger Sch Arts & Sci, Dept Mol & Cellular Biol, Baltimore, MD USA
来源：
HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM | 2021年 / 01期
关键词：
SEVERE CONGENITAL NEUTROPENIA; FANCONI-ANEMIA PATIENTS; MYELODYSPLASTIC SYNDROME; CLONAL HEMATOPOIESIS; MUTATIONS; MOSAICISM; RISK; CANCER; COHORT; STEM;
D O I：
10.1182/hematology.2021000271
中图分类号：
G40 [教育学];
学科分类号：
040101 ; 120403 ;
摘要：
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.
引用
收藏
页码：390 / 398
页数：9
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