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DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults.DNMT3A过生长综合征与儿童和青年成人造血系统恶性肿瘤的发生有关。
Blood. 2022 Jan 20;139(3):461-464. doi: 10.1182/blood.2021014052.
2
Dnmt3a deficiency in the skin causes focal, canonical DNA hypomethylation and a cellular proliferation phenotype.皮肤中的 Dnmt3a 缺乏会导致局部、典型的 DNA 低甲基化和细胞增殖表型。
Proc Natl Acad Sci U S A. 2021 Apr 20;118(16). doi: 10.1073/pnas.2022760118.
3
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.DNMT3A 过度生长综合征患者与小鼠的功能和表观遗传表型。
Nat Commun. 2021 Jul 27;12(1):4549. doi: 10.1038/s41467-021-24800-7.
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Donor Clonal Hematopoiesis and Recipient Outcomes After Transplantation.供者克隆性造血与移植后受者结局
J Clin Oncol. 2022 Jan 10;40(2):189-201. doi: 10.1200/JCO.21.02286. Epub 2021 Nov 18.
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The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.塔顿-布朗-拉赫曼综合征中DNMT3A变异体的谱系与血液系统恶性肿瘤中的谱系重叠。
Am J Med Genet A. 2017 Nov;173(11):3022-3028. doi: 10.1002/ajmg.a.38485. Epub 2017 Sep 21.
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Alterations to in Hematologic Malignancies.血液系统恶性肿瘤中的 改变。
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Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.在一系列 24 名法国患者中扩展 Tatton-Brown-Rahman 综合征的遗传和临床谱。
J Med Genet. 2024 Aug 29;61(9):878-885. doi: 10.1136/jmg-2024-110031.
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Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.胚系 DNMT3A 过度生长 Tatton-Brown-Rahman 综合征个体中造血功能紊乱。
Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990.
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DNMT3A mutations occur early or late in patients with myeloproliferative neoplasms and mutation order influences phenotype.DNA甲基转移酶3A（DNMT3A）突变在骨髓增殖性肿瘤患者中可早发或晚发，且突变顺序会影响表型。
Haematologica. 2015 Nov;100(11):e438-42. doi: 10.3324/haematol.2015.129510. Epub 2015 Aug 6.
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Clonal Cytopenia of Undetermined Significance in a Patient with Congenital Wilms' Tumor 1 and Acquired DNMT3A Gene Mutations.先天性 Wilms 瘤 1 合并获得性 DNMT3A 基因突变患者的意义未明克隆性细胞减少症。
Intern Med. 2021 Dec 1;60(23):3785-3788. doi: 10.2169/internalmedicine.7571-21. Epub 2021 May 29.

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Overgrowth-intellectual disability disorders: progress in biology, patient advocacy and innovative therapies.过度生长-智力障碍疾病：生物学、患者权益倡导及创新疗法的进展
Dis Model Mech. 2025 May 1;18(5). doi: 10.1242/dmm.052300. Epub 2025 May 12.
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Mechanisms of DNA Methylation Regulatory Function and Crosstalk with Histone Lysine Methylation.DNA 甲基化调控功能的机制及其与组蛋白赖氨酸甲基化的串扰。
J Mol Biol. 2024 Apr 1;436(7):168394. doi: 10.1016/j.jmb.2023.168394. Epub 2023 Dec 12.
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Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits.DNMT3A 中的不同疾病突变导致一系列行为、表观遗传和转录缺陷。
Cell Rep. 2023 Nov 28;42(11):113411. doi: 10.1016/j.celrep.2023.113411. Epub 2023 Nov 11.
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The Role of Clonal Hematopoiesis of Indeterminant Potential and DNA (Cytosine-5)-Methyltransferase Dysregulation in Pulmonary Arterial Hypertension and Other Cardiovascular Diseases.不定潜能克隆性造血与 DNA（胞嘧啶-5）-甲基转移酶失调在肺动脉高压和其他心血管疾病中的作用。
Cells. 2023 Oct 26;12(21):2528. doi: 10.3390/cells12212528.
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Overgrowth syndromes, diagnosis and management.过度生长综合征的诊断与治疗。
Curr Opin Pediatr. 2023 Dec 1;35(6):620-630. doi: 10.1097/MOP.0000000000001298. Epub 2023 Oct 4.
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Genetic Predisposition to Hematologic Malignancies in Childhood and Adolescence.儿童和青少年血液系统恶性肿瘤的遗传易感性
Mediterr J Hematol Infect Dis. 2023 May 1;15(1):e2023032. doi: 10.4084/MJHID.2023.032. eCollection 2023.
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Melanoma in a patient with DNMT3A overgrowth syndrome.患者患有 DNMT3A 过度生长综合征的黑色素瘤。
Cold Spring Harb Mol Case Stud. 2023 May 9;9(2). doi: 10.1101/mcs.a006267. Print 2023 Apr.
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A novel DNA methylation-related gene signature for the prediction of overall survival and immune characteristics of ovarian cancer patients.一种新型与 DNA 甲基化相关的基因特征，用于预测卵巢癌患者的总生存期和免疫特征。
J Ovarian Res. 2023 Mar 29;16(1):62. doi: 10.1186/s13048-023-01142-0.
9
Clonal haematopoiesis and dysregulation of the immune system.克隆性造血与免疫系统失调。
Nat Rev Immunol. 2023 Sep;23(9):595-610. doi: 10.1038/s41577-023-00843-3. Epub 2023 Mar 20.
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Clonal Hematopoiesis: Role in Hematologic and Non-Hematologic Malignancies.克隆性造血：在血液系统和非血液系统恶性肿瘤中的作用
Mediterr J Hematol Infect Dis. 2022 Sep 1;14(1):e2022069. doi: 10.4084/MJHID.2022.069. eCollection 2022.

本文引用的文献

1
Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.DNMT3A 过度生长综合征患者与小鼠的功能和表观遗传表型。
Nat Commun. 2021 Jul 27;12(1):4549. doi: 10.1038/s41467-021-24800-7.
2
Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.胚系 DNMT3A 过度生长 Tatton-Brown-Rahman 综合征个体中造血功能紊乱。
Haematologica. 2022 Apr 1;107(4):887-898. doi: 10.3324/haematol.2021.278990.
3
Tatton-Brown-Rahman syndrome: Six individuals with novel features.塔顿-布朗-拉曼综合征：六名具有新特征的个体。
Am J Med Genet A. 2020 Apr;182(4):673-680. doi: 10.1002/ajmg.a.61475. Epub 2020 Jan 21.
4
Acromegaly in the setting of Tatton-Brown-Rahman Syndrome.塔顿-布朗-拉赫曼综合征中的肢端肥大症。
Pituitary. 2020 Apr;23(2):167-170. doi: 10.1007/s11102-019-01019-w.
5
Adolescent and young adult oncology-past, present, and future.青少年及青年肿瘤学：过去、现在与未来。
CA Cancer J Clin. 2019 Nov;69(6):485-496. doi: 10.3322/caac.21585. Epub 2019 Oct 8.
6
The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.首例与 Tatton-Brown-Rahman 综合征相关的髓母细胞瘤病例报告。
Am J Med Genet A. 2019 Jul;179(7):1357-1361. doi: 10.1002/ajmg.a.61180. Epub 2019 May 7.
7
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with constitutive variants.塔顿-布朗-拉赫曼综合征：对55名具有组成型变异个体的临床研究。
Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.
8
The molecular landscape of pediatric acute myeloid leukemia reveals recurrent structural alterations and age-specific mutational interactions.儿童急性髓系白血病的分子特征揭示了反复出现的结构改变和年龄特异性的突变相互作用。
Nat Med. 2018 Jan;24(1):103-112. doi: 10.1038/nm.4439. Epub 2017 Dec 11.
9
Haploinsufficiency for DNA methyltransferase 3A predisposes hematopoietic cells to myeloid malignancies.DNA甲基转移酶3A的单倍剂量不足使造血细胞易患髓系恶性肿瘤。
J Clin Invest. 2017 Oct 2;127(10):3657-3674. doi: 10.1172/JCI93041. Epub 2017 Sep 5.
10
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions.白血病易感儿童监测建议。
Clin Cancer Res. 2017 Jun 1;23(11):e14-e22. doi: 10.1158/1078-0432.CCR-17-0428.

DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults.

作者信息

Ferris Margaret A, Smith Amanda M, Heath Sharon E, Duncavage Eric J, Oberley Matthew, Freyer David, Wynn Robert, Douzgou Sofia, Maris John M, Reilly Anne F, Wu Melinda D, Choo Florence, Fiets Roel B, Koene Saskia, Spencer David H, Miller Christopher A, Shinawi Marwan, Ley Timothy J

机构信息

Department of Pediatrics.

Department of Medicine, and.

出版信息

Blood. 2022 Jan 20;139(3):461-464. doi: 10.1182/blood.2021014052.

DOI:10.1182/blood.2021014052
PMID:34788385
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8777205/
Abstract
摘要