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1
and complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.以及复杂基因座（MECOM）：遗传性血液系统恶性肿瘤的一个新候选基因。
Haematologica. 2018 Feb;103(2):e55-e58. doi: 10.3324/haematol.2017.178723. Epub 2017 Nov 2.
2
Functional features of EVI1 and EVI1Δ324 isoforms of MECOM gene in genome-wide transcription regulation and oncogenicity.MECOM 基因的 EVI1 和 EVI1Δ324 异构体在全基因组转录调控和致癌性中的功能特征。
Oncogene. 2016 May 5;35(18):2311-21. doi: 10.1038/onc.2015.286. Epub 2015 Aug 3.
3
Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.Mecom 突变与桡尺骨融合伴巨核细胞血小板减少症有关，导致小鼠 HSPC 减少。
Blood Adv. 2023 Sep 26;7(18):5409-5420. doi: 10.1182/bloodadvances.2022008462.
4
Molecular analysis of more than 140 gene fusion variants and aberrant activation of EVI1 and TLX1 in hematological malignancies.血液系统恶性肿瘤中140多种基因融合变体的分子分析以及EVI1和TLX1的异常激活。
Ann Hematol. 2017 Oct;96(10):1605-1623. doi: 10.1007/s00277-017-3075-x. Epub 2017 Aug 5.
5
A novel mutation in MECOM affects MPL regulation in vitro and results in thrombocytopenia and bone marrow failure.一种新的 MECOM 突变影响 MPL 的体外调节，导致血小板减少和骨髓衰竭。
Br J Haematol. 2023 Dec;203(5):852-859. doi: 10.1111/bjh.19023. Epub 2023 Aug 23.
6
The MDS and EVI1 complex locus (MECOM) isoforms regulate their own transcription and have different roles in the transformation of hematopoietic stem and progenitor cells.MDS 和 EVI1 复合物基因座（MECOM）异构体调节自身转录，在造血干细胞和祖细胞的转化中具有不同的作用。
Biochim Biophys Acta Gene Regul Mech. 2017 Jun;1860(6):721-729. doi: 10.1016/j.bbagrm.2017.03.007. Epub 2017 Apr 6.
7
A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.一个患有桡尺骨融合伴巨核细胞减少性血小板减少症的中国男孩中 MECOM 基因的新型错义突变。
BMC Pediatr. 2024 Jan 20;24(1):62. doi: 10.1186/s12887-024-04552-1.
8
MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.MECOM 相关疾病：独特变异导致的无血液学异常的桡尺骨融合
Genet Med. 2022 May;24(5):1139-1147. doi: 10.1016/j.gim.2022.01.021. Epub 2022 Feb 24.
9
EVI1 is consistently expressed as principal transcript in common and rare recurrent 3q26 rearrangements.EVI1在常见和罕见的复发性3q26重排中始终作为主要转录本表达。
Genes Chromosomes Cancer. 2006 Apr;45(4):349-56. doi: 10.1002/gcc.20295.
10
Hereditary Hematologic Malignancies.遗传性血液系统恶性肿瘤
Clin Lymphoma Myeloma Leuk. 2020 Sep;20 Suppl 1:S27-S29. doi: 10.1016/S2152-2650(20)30451-1.

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Rare Genetic and Uncommon Morphological Entities in Adults with Acute Myeloid Leukemia.成人急性髓系白血病中的罕见遗传和不常见形态学实体
Curr Oncol Rep. 2025 Apr 28. doi: 10.1007/s11912-025-01678-y.
2
A novel MECOM gene variant causes severe thrombocytopenia in a neonate: a case report and review of the literature.一种新型MECOM基因变异导致新生儿严重血小板减少症：病例报告及文献综述
J Med Case Rep. 2025 Apr 1;19(1):147. doi: 10.1186/s13256-025-05194-2.
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Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts.基于基因组优先确定八个种系髓系恶性肿瘤易感基因的患病率和外显率：一项基于两个群体队列的研究
Leukemia. 2025 Feb;39(2):400-411. doi: 10.1038/s41375-024-02436-y. Epub 2024 Nov 6.
4
Genetic predisposition to myelodysplastic syndrome: Genetic counseling and transplant implications.骨髓增生异常综合征的遗传易感性：遗传咨询及移植意义
Semin Hematol. 2024 Dec;61(6):370-378. doi: 10.1053/j.seminhematol.2024.09.003. Epub 2024 Sep 22.
5
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.儿童造血系统恶性肿瘤遗传易感性监测建议的更新。
Clin Cancer Res. 2024 Oct 1;30(19):4286-4295. doi: 10.1158/1078-0432.CCR-24-0685.
6
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.解析MECOM相关综合征的各个方面：体细胞基因挽救、克隆性造血和表型扩展。
Blood Adv. 2024 Jul 9;8(13):3437-3443. doi: 10.1182/bloodadvances.2023012331.
7
Rare Hematologic Malignancies and Pre-Leukemic Entities in Children and Adolescents Young Adults.儿童、青少年及青年中的罕见血液系统恶性肿瘤和白血病前期病变
Cancers (Basel). 2024 Feb 29;16(5):997. doi: 10.3390/cancers16050997.
8
A novel missense mutation in the MECOM gene in a Chinese boy with radioulnar synostosis with amegakaryocytic thrombocytopenia.一个患有桡尺骨融合伴巨核细胞减少性血小板减少症的中国男孩中 MECOM 基因的新型错义突变。
BMC Pediatr. 2024 Jan 20;24(1):62. doi: 10.1186/s12887-024-04552-1.
9
Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma progression by inhibiting glycolysis.热休克蛋白 B7（HSPB7）通过抑制糖酵解抑制肺腺癌的进展。
Oncol Rep. 2023 Nov;50(5). doi: 10.3892/or.2023.8633. Epub 2023 Sep 21.
10
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.MECOM 缺陷：从骨髓衰竭到 B 细胞发育受损。
J Clin Immunol. 2023 Aug;43(6):1052-1066. doi: 10.1007/s10875-023-01545-0. Epub 2023 Jul 5.

本文引用的文献

1
How I diagnose and manage individuals at risk for inherited myeloid malignancies.我如何诊断和管理遗传性髓系恶性肿瘤风险个体。
Blood. 2016 Oct 6;128(14):1800-1813. doi: 10.1182/blood-2016-05-670240. Epub 2016 Jul 28.
2
Review: Aberrant EVI1 expression in acute myeloid leukaemia.综述：急性髓系白血病中EVI1的异常表达
Br J Haematol. 2016 Mar;172(6):870-8. doi: 10.1111/bjh.13898. Epub 2016 Jan 5.
3
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.
4
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia.编码癌蛋白EVI1的MECOM基因突变导致桡尺骨融合伴无巨核细胞性血小板减少症。
Am J Hum Genet. 2015 Dec 3;97(6):848-54. doi: 10.1016/j.ajhg.2015.10.010. Epub 2015 Nov 12.
5
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.一名患有3q26.2q26.31间质性微缺失的新生儿的先天性血小板减少症。
Am J Med Genet A. 2016 Feb;170A(2):504-509. doi: 10.1002/ajmg.a.37451. Epub 2015 Nov 10.
6
A single oncogenic enhancer rearrangement causes concomitant EVI1 and GATA2 deregulation in leukemia.单一癌基因增强子重排导致白血病中 EVI1 和 GATA2 的同时失调。
Cell. 2014 Apr 10;157(2):369-381. doi: 10.1016/j.cell.2014.02.019. Epub 2014 Apr 3.
7
Activation of Evi1 inhibits cell cycle progression and differentiation of hematopoietic progenitor cells.Evi1 的激活抑制造血祖细胞的细胞周期进程和分化。
Leukemia. 2013 Apr;27(5):1127-38. doi: 10.1038/leu.2012.355. Epub 2012 Dec 5.
8
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemia.3q26 区缺失包括 EVI1 和 MDS1 基因的新生儿先天性血小板减少症和随后的再生障碍性贫血。
J Med Genet. 2012 Sep;49(9):598-600. doi: 10.1136/jmedgenet-2012-100990.
9
Targeting a DNA binding motif of the EVI1 protein by a pyrrole-imidazole polyamide.靶向 EVI1 蛋白的 DNA 结合基序的吡咯-咪唑聚酰胺。
Biochemistry. 2011 Dec 6;50(48):10431-41. doi: 10.1021/bi200962u. Epub 2011 Nov 10.
10
Keep your fingers off my DNA: protein-protein interactions mediated by C2H2 zinc finger domains.别碰我的DNA：由C2H2锌指结构域介导的蛋白质-蛋白质相互作用
Cell Biochem Biophys. 2008;50(3):111-31. doi: 10.1007/s12013-008-9008-5. Epub 2008 Feb 6.

and complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies.

作者信息

Ripperger Tim, Hofmann Winfried, Koch Jan C, Shirneshan Katayoon, Haase Detlef, Wulf Gerald, Issing Peter R, Karnebogen Matthias, Schmidt Gunnar, Auber Bernd, Schlegelberger Brigitte, Illig Thomas, Zirn Birgit, Steinemann Doris

机构信息

Department of Human Genetics, Hannover Medical School, Göttingen, Germany

Department of Human Genetics, Hannover Medical School, Göttingen, Germany.

出版信息

Haematologica. 2018 Feb;103(2):e55-e58. doi: 10.3324/haematol.2017.178723. Epub 2017 Nov 2.

DOI:10.3324/haematol.2017.178723
PMID:29097497
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5792286/
Abstract
摘要