The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

被引：393

作者：

Sperling, Adam S. ^{[1
,2
,3
]}

Gibson, Christopher J. ^{[1
,2
,3
]}

Ebert, Benjamin L. ^{[1
,2
,3
]}

机构：

[1] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA

[2] Brigham & Womens Hosp, Boston, MA 02115 USA

[3] Brigham & Womens Hosp, Dept Med, Div Hematol, Boston, MA 02115 USA

来源：

NATURE REVIEWS CANCER | 2017年 / 17卷 / 01期

基金：

美国国家卫生研究院;

关键词：

ACUTE MYELOID-LEUKEMIA; GAIN-OF-FUNCTION; PROGNOSTIC SCORING SYSTEM; AGE-RELATED MUTATIONS; SOMATIC MUTATIONS; STEM-CELLS; TUMOR-SUPPRESSOR; TET2; MUTATIONS; POLYCOMB-GROUP; REFRACTORY-ANEMIA;

D O I：

10.1038/nrc.2016.112

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal haematopoiesis of indeterminate potential (CHIP) to secondary acute myeloid leukaemia (sAML), MDS is distinguished by the presence of peripheral blood cytopenias, dysplastic haematopoietic differentiation and the absence of features that define acute leukaemia. More than 50 recurrently mutated genes are involved in the pathogenesis of MDS, including genes that encode proteins involved in pre-mRNA splicing, epigenetic regulation and transcription. In this Review we discuss the molecular processes that lead to CHIP and further clonal evolution to MDS and sAML. We also highlight the ways in which these insights are shaping the clinical management of MDS, including classification schemata, prognostic scoring systems and therapeutic approaches.

引用

页码：5 / 19

页数：15

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