The genomics of inherited bone marrow failure: from mechanism to the clinic

被引:79
作者
Wegman-Ostrosky, Talia [1 ,2 ]
Savage, Sharon A. [1 ]
机构
[1] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA
[2] Inst Nacl Cancerol, Div Res, Mexico City, DF, Mexico
关键词
inherited bone marrow failure; Fanconi anaemia; dyskeratosis congenita; Diamond Blackfan anaemia; Shwachman Diamond syndrome; DIAMOND-BLACKFAN ANEMIA; HOYERAAL-HREIDARSSON-SYNDROME; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; ACUTE MYELOGENOUS LEUKEMIA; CROSS-LINK REPAIR; C-MPL MUTATIONS; FANCONI-ANEMIA; DYSKERATOSIS-CONGENITA; SOMATIC MOSAICISM; APLASTIC-ANEMIA;
D O I
10.1111/bjh.14535
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The inherited bone marrow failure syndromes (IBMFS) typically present with significant cytopenias in at least one haematopoietic cell lineage that may progress to pancytopenia, and are associated with increased risk of cancer. Although the clinical features of the IBMFS are often diagnostic, variable disease penetrance and expressivity may result in diagnostic dilemmas. The discovery of the genetic aetiology of the IBMFS has been greatly facilitated by next-generation sequencing methods. This has advanced understanding of the underlying biology of the IBMFS and been essential in improving clinical management and genetic counselling for affected patients. Herein we review the clinical features, underlying biology, and new genomic discoveries in the IBMFS, including Fanconi anaemia, dyskeratosis congenita, Diamond Blackfan anaemia, Shwachman Diamond syndrome and some disorders of the myeloid and megakaryocytic lineages.
引用
收藏
页码:526 / 542
页数:17
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