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Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.伴有潜在GATA2突变的小儿骨髓增生异常综合征/急性髓细胞白血病患者成功进行脐带血造血干细胞移植：两例病例报告及文献综述
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Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.一个患有骨髓增生异常综合征/急性髓系白血病并伴有血小板减少症的家系中复合顺式GATA2种系突变的特征分析
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Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation.异基因造血干细胞移植后供者来源骨髓增生异常综合征一家系伴种系 GATA2 突变。
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Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations.有或无种系GATA2突变的骨髓衰竭、骨髓增生异常综合征和急性髓系白血病儿科患者清髓性异基因干细胞移植结局的比较
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High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.GATA2 突变在从轻症慢性中性粒细胞减少症进展为单克隆巨噬细胞增生症、骨髓增生异常和急性髓系白血病的患者中高频发生。
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Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.胚系 GATA2 失活突变导致 MDS/AML 或 MonoMAC 综合征和原发性淋巴水肿患者发病，揭示了 GATA2 在淋巴管生成中的关键作用。
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[Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome].[GATA2相关小儿原发性骨髓增生异常综合征的临床及分子特征]
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J Clin Invest. 2025 Aug 1;135(15). doi: 10.1172/JCI190264.
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A case report of donor cell-derived hematologic neoplasms 9 years after allogeneic hematopoietic cell transplantation.异基因造血细胞移植9年后供体细胞来源血液系统肿瘤的病例报告
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Post-transplant transient abnormal myelopoiesis evolving from a GATA1 mutant clone in umbilical cord blood.移植后短暂异常髓系造血由脐带血中的GATA1突变克隆演变而来。
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Therapy-Related Myeloid Neoplasms: Complex Interactions among Cytotoxic Therapies, Genetic Factors, and Aberrant Microenvironment.治疗相关髓系肿瘤：细胞毒性治疗、遗传因素和异常微环境之间的复杂相互作用。
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The different faces of GATA2 deficiency: implications for therapy and surveillance.GATA2 缺乏症的不同表现：对治疗和监测的意义。
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Implementation of and Systems-Level Barriers to Guideline-Driven Germline Genetic Evaluation in the Care of Patients With Myelodysplastic Syndrome and Acute Myeloid Leukemia.指导下的种系遗传评估在骨髓增生异常综合征和急性髓系白血病患者治疗中的实施情况和系统障碍。
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Genomic testing for germline predisposition to hematologic malignancies.血液系统恶性肿瘤种系易感性的基因组检测。
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Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.单基因病因与持续性人乳头瘤病毒感染：系统综述。
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Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.供体来源的恶性肿瘤与移植相关并发症：异基因造血干细胞移植中患者及供体遗传学风险
Transplant Cell Ther. 2024 Mar;30(3):255-267. doi: 10.1016/j.jtct.2023.10.018. Epub 2023 Oct 31.
10
How I diagnose myeloid neoplasms with germline predisposition.我如何诊断具有种系倾向的髓系肿瘤。
Am J Clin Pathol. 2023 Oct 3;160(4):352-364. doi: 10.1093/ajcp/aqad075.

本文引用的文献

1
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.
2
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.
3
In vivo T-depleted reduced-intensity transplantation for -related immune dysfunction.体内 T 细胞耗竭的降低强度移植治疗与免疫功能障碍相关的疾病。
Blood. 2018 Mar 22;131(12):1383-1387. doi: 10.1182/blood-2017-10-811489. Epub 2018 Jan 2.
4
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
5
GATA2 deficiency and related myeloid neoplasms.GATA2缺陷与相关髓系肿瘤
Semin Hematol. 2017 Apr;54(2):81-86. doi: 10.1053/j.seminhematol.2017.05.002. Epub 2017 May 10.
6
Genetic predisposition to hematologic malignancies: management and surveillance.血液系统恶性肿瘤的遗传易感性：管理与监测
Blood. 2017 Jul 27;130(4):424-432. doi: 10.1182/blood-2017-02-735290. Epub 2017 Jun 9.
7
Donor cell leukemia arising from preleukemic clones with a novel germline DDX41 mutation after allogenic hematopoietic stem cell transplantation.异基因造血干细胞移植后，源于具有新型种系DDX41突变的白血病前期克隆的供体细胞白血病。
Leukemia. 2017 Apr;31(4):1020-1022. doi: 10.1038/leu.2017.44. Epub 2017 Feb 14.
8
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.
9
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.
10
GATA2 deficiency.GATA2缺陷
Curr Opin Allergy Clin Immunol. 2015 Feb;15(1):104-9. doi: 10.1097/ACI.0000000000000126.

Donor-derived MDS/AML in families with germline mutation.

作者信息

Galera Pallavi, Hsu Amy P, Wang Weixin, Droll Stephenie, Chen Rui, Schwartz Jason R, Klco Jeffery M, Arai Sally, Maese Luke, Zerbe Christa, Parta Mark J, Young Neal S, Holland Steven M, Hickstein Dennis D, Calvo Katherine R

机构信息

Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health (NIH), Bethesda, MD.

Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD.

出版信息

Blood. 2018 Nov 1;132(18):1994-1998. doi: 10.1182/blood-2018-07-861070. Epub 2018 Sep 19.

DOI:10.1182/blood-2018-07-861070
PMID:30232126
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6213320/
Abstract
摘要