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[Alert in germline mutation predisposed to myeloid neoplasm: myelodysplastic syndromes accompanied with GATA2 deficeincy syndrome].

作者信息

Yao H, Yang X, Zhang X, Wang P, Deng X J, Luo M L, Chen T, Liu Y Q, Feng Y M, Gao L, Kong P Y

机构信息

Hematology Medical Center of Army Medical University Affiliated Second Hospital, Chongqing 400037, China.

Department of Rheumatology and Immunology, Chongqing Medical University Affiliated Children's Hospital, Chongqing 400015, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2021 Dec 14;42(12):1042-1045. doi: 10.3760/cma.j.issn.0253-2727.2021.12.015.

DOI:10.3760/cma.j.issn.0253-2727.2021.12.015
PMID:35045679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8770874/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22c/8770874/261aefc04cab/cjh-42-12-1042-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22c/8770874/79ec635091df/cjh-42-12-1042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22c/8770874/261aefc04cab/cjh-42-12-1042-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22c/8770874/79ec635091df/cjh-42-12-1042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e22c/8770874/261aefc04cab/cjh-42-12-1042-g002.jpg

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本文引用的文献

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GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes.GATA2相关病症与小儿骨髓增生异常综合征的易感性
Cancers (Basel). 2020 Oct 13;12(10):2962. doi: 10.3390/cancers12102962.
2
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.同义 GATA2 突变导致突变 RNA 的选择性丢失，并且在 GATA2 缺陷患者中很常见。
Leukemia. 2020 Oct;34(10):2673-2687. doi: 10.1038/s41375-020-0899-5. Epub 2020 Jun 18.
3
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
GATA2单等位基因表达是遗传性GATA2突变的骨髓增生异常综合征/急性髓系白血病中低外显率的基础。
Leukemia. 2018 Nov;32(11):2502-2507. doi: 10.1038/s41375-018-0134-9. Epub 2018 Apr 19.
4
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.79 例法比患者 GATA2 缺陷的自然病史调查。
Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3.
5
Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.异基因造血干细胞移植治疗 GATA2 缺陷症：采用基于白消安的方案。
Biol Blood Marrow Transplant. 2018 Jun;24(6):1250-1259. doi: 10.1016/j.bbmt.2018.01.030. Epub 2018 Feb 3.
6
Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants.骨髓增生异常综合征患儿的突变图谱与成人不同：特定的体细胞驱动因素和新的种系变异。
Leukemia. 2017 Mar;31(3):759-762. doi: 10.1038/leu.2016.342. Epub 2016 Nov 23.
7
Mutational profiling of a MonoMAC syndrome family with GATA2 deficiency.一个患有GATA2缺乏症的单MAC综合征家族的突变谱分析。
Leukemia. 2017 Jan;31(1):244-245. doi: 10.1038/leu.2016.256. Epub 2016 Sep 29.
8
Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.B细胞及其前体的缺失是儿童骨髓增生异常综合征中GATA-2缺乏最常见的特征。
Haematologica. 2016 Jun;101(6):707-16. doi: 10.3324/haematol.2015.137711. Epub 2016 Mar 24.
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.
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Haematopoietic and immune defects associated with GATA2 mutation.与GATA2突变相关的造血和免疫缺陷。
Br J Haematol. 2015 Apr;169(2):173-87. doi: 10.1111/bjh.13317. Epub 2015 Feb 23.