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骨髓增生异常综合征的遗传学

Genetics of Myelodysplastic Syndromes.

作者信息

Saygin Caner, Godley Lucy A

机构信息

Section of Hematology/Oncology, Department of Medicine, The University of Chicago, 5841 S. Maryland Ave., MC 2115, Chicago, IL 60637, USA.

出版信息

Cancers (Basel). 2021 Jul 6;13(14):3380. doi: 10.3390/cancers13143380.

Abstract

Myelodysplastic syndrome (MDS) describes a heterogeneous group of bone marrow diseases, now understood to reflect numerous germline and somatic drivers, characterized by recurrent cytogenetic abnormalities and gene mutations. Precursor conditions including clonal hematopoiesis of indeterminate potential and clonal cytopenia of undetermined significance confer risk for MDS as well as other hematopoietic malignancies and cardiovascular complications. The future is likely to bring an understanding of those individuals who are at the highest risk of progression to MDS and preventive strategies to prevent malignant transformation.

摘要

骨髓增生异常综合征(MDS)描述了一组异质性的骨髓疾病,目前认为这些疾病反映了众多种系和体细胞驱动因素,其特征为反复出现的细胞遗传学异常和基因突变。前驱疾病包括意义未明的克隆性造血和意义未明的克隆性血细胞减少,这些疾病会增加患MDS以及其他血液系统恶性肿瘤和心血管并发症的风险。未来,人们可能会了解哪些个体进展为MDS的风险最高,并制定预防策略以防止恶性转化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d476/8304604/2b63d8adc14d/cancers-13-03380-g001.jpg

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