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Germline variants drive myelodysplastic syndrome in young adults.

作者信息

Feurstein Simone, Churpek Jane E, Walsh Tom, Keel Sioban, Hakkarainen Marja, Schroeder Thomas, Germing Ulrich, Geyh Stefanie, Heuser Michael, Thol Felicitas, Pohlkamp Christian, Haferlach Torsten, Gao Juehua, Owen Carolyn, Goehring Gudrun, Schlegelberger Brigitte, Verma Divij, Krause Daniela S, Gao Guimin, Cronin Tara, Gulsuner Suleyman, Lee Ming, Pritchard Colin C, Subramanian Hari Prasanna, Del Gaudio Daniela, Li Zejuan, Das Soma, Kilpivaara Outi, Wartiovaara-Kautto Ulla, Wang Eunice S, Griffiths Elizabeth A, Döhner Konstanze, Döhner Hartmut, King Mary-Claire, Godley Lucy A

机构信息

Department of Medicine, Section of Hematology/Oncology, The University of Chicago Comprehensive Cancer Center, The University of Chicago, Chicago, IL, USA.

Division of Hematology, Medical Oncology, and Palliative Care, Department of Medicine, The University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.

出版信息

Leukemia. 2021 Aug;35(8):2439-2444. doi: 10.1038/s41375-021-01137-0. Epub 2021 Jan 28.

DOI:10.1038/s41375-021-01137-0
PMID:33510405
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8725861/
Abstract
摘要

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本文引用的文献

1
Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.杂合子种系CSF3R变异作为血液系统恶性肿瘤发生的风险等位基因。
Blood Adv. 2020 Oct 27;4(20):5269-5284. doi: 10.1182/bloodadvances.2020002013.
2
Germline DDX41 mutations define a significant entity within adult MDS/AML patients.胚系 DDX41 突变定义了成年 MDS/AML 患者中的一个重要实体。
Blood. 2019 Oct 24;134(17):1441-1444. doi: 10.1182/blood.2019000909.
3
The genomic landscape of pediatric myelodysplastic syndromes.儿科骨髓增生异常综合征的基因组图谱。
Nat Commun. 2017 Nov 16;8(1):1557. doi: 10.1038/s41467-017-01590-5.
4
Incidence and outcome of acquired aplastic anemia: real-world data from patients diagnosed in Sweden from 2000-2011.获得性再生障碍性贫血的发病率和转归：来自瑞典 2000-2011 年诊断患者的真实世界数据。
Haematologica. 2017 Oct;102(10):1683-1690. doi: 10.3324/haematol.2017.169862. Epub 2017 Jul 27.
5
Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.基于基因 panel 的检测在遗传性骨髓增生异常综合征/急性白血病易感综合征中的临床应用
Leukemia. 2017 May;31(5):1226-1229. doi: 10.1038/leu.2017.28. Epub 2017 Jan 20.
6
Myelodysplastic Syndromes, Version 2.2017, NCCN Clinical Practice Guidelines in Oncology.骨髓增生异常综合征，2.2017 年版，NCCN 肿瘤学临床实践指南。
J Natl Compr Canc Netw. 2017 Jan;15(1):60-87. doi: 10.6004/jnccn.2017.0007.
7
Hematopoietic cell transplantation in Fanconi anemia: current evidence, challenges and recommendations.范可尼贫血症的造血细胞移植：现有证据、挑战与建议。
Expert Rev Hematol. 2017 Jan;10(1):81-97. doi: 10.1080/17474086.2016.1268048. Epub 2016 Dec 21.
8
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.儿童及青年患者骨髓增生异常综合征和再生障碍性贫血的遗传特征。
Haematologica. 2016 Nov;101(11):1343-1350. doi: 10.3324/haematol.2016.149476. Epub 2016 Jul 14.
9
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.儿童和青少年 GATA2 相关性骨髓增生异常综合征的患病率、临床特征和预后。
Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23.
10
Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.家族性骨髓增生异常综合征/急性髓系白血病中生殖系和体细胞变异的基因组分析。
Blood. 2015 Nov 26;126(22):2484-90. doi: 10.1182/blood-2015-04-641100. Epub 2015 Oct 22.