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一名患有沃纳综合征的患者在接受急性髓性白血病诱导化疗后出现严重毒性反应。

Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome.

作者信息

Seiter Karen, Qureshi Anila, Liu Delong, Galvin-Parton Patricia, Arshad Muhammad, Agoliati Glen, Ahmed Tauseef

机构信息

Zalmen A. Arlin Cancer Institute, New York Medical College, Valhalla, NY 10595, USA.

出版信息

Leuk Lymphoma. 2005 Jul;46(7):1091-5. doi: 10.1080/10428190500102688.

DOI:10.1080/10428190500102688
PMID:16019564
Abstract

Werner's syndrome is an autosomal recessive disorder resulting in premature aging. Most patients die in their fifth decade from malignancies or heart disease. The gene for Werner's syndrome (WRN) encodes a recQ helicase. Cells from patients with Werner's syndrome have increased sensitivity to DNA-damaging drugs in vitro. Here we present a patient with Werner's syndrome who developed severe chemotherapy-induced toxicity during treatment for acute myelogenous leukemia. We propose that lack of WRN resulted in increased sensitivity of the patient's cells to the toxicity of chemotherapy.

摘要

沃纳综合征是一种常染色体隐性疾病,会导致早衰。大多数患者在五十多岁时死于恶性肿瘤或心脏病。沃纳综合征(WRN)基因编码一种recQ解旋酶。体外实验中,沃纳综合征患者的细胞对DNA损伤药物的敏感性增加。本文报告了一名患有沃纳综合征的患者,其在急性髓性白血病治疗期间发生了严重的化疗诱导毒性反应。我们认为,WRN的缺失导致了患者细胞对化疗毒性的敏感性增加。

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Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome.一名患有沃纳综合征的患者在接受急性髓性白血病诱导化疗后出现严重毒性反应。
Leuk Lymphoma. 2005 Jul;46(7):1091-5. doi: 10.1080/10428190500102688.
2
LMNA mutations in atypical Werner's syndrome.非典型沃纳综合征中的LMNA基因突变。
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Werner's syndrome lymphoblastoid cells are hypersensitive to topoisomerase II inhibitors in the G2 phase of the cell cycle.维尔纳综合征淋巴母细胞样细胞在细胞周期的G2期对拓扑异构酶II抑制剂高度敏感。
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Covalent modification of the Werner's syndrome gene product with the ubiquitin-related protein, SUMO-1.沃纳综合征基因产物与泛素相关蛋白SUMO-1的共价修饰。
J Biol Chem. 2000 Jul 14;275(28):20963-6. doi: 10.1074/jbc.C000273200.
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DNA helicase activity in Werner's syndrome gene product synthesized in a baculovirus system.在杆状病毒系统中合成的沃纳综合征基因产物中的DNA解旋酶活性。
Nucleic Acids Res. 1997 Aug 1;25(15):2973-8. doi: 10.1093/nar/25.15.2973.
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Cigarette smoke induces cellular senescence via Werner's syndrome protein down-regulation.香烟烟雾通过下调沃纳综合征蛋白诱导细胞衰老。
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The 1396del A mutation and a missense mutation or a rare polymorphism of the WRN gene detected in a French Werner family with a severe phenotype and a case of an unusual vulvar cancer. Mutations in brief no. 136. Online.在一个具有严重表型的法国家庭的维尔纳综合征患者以及一例罕见的外阴癌病例中检测到WRN基因的1396del A突变、一个错义突变或罕见多态性。突变简讯第136号。在线发布。
Hum Mutat. 1998;11(5):413-4. doi: 10.1002/(SICI)1098-1004(1998)11:5<413::AID-HUMU16>3.0.CO;2-I.
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Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest.沃纳综合征蛋白(WRN)可迁移霍利迪连接体,并在复制停滞时与复制蛋白A共定位。
EMBO Rep. 2000 Jul;1(1):80-4. doi: 10.1093/embo-reports/kvd004.
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Physical and functional interaction of the Werner syndrome protein with poly-ADP ribosyl transferase.沃纳综合征蛋白与聚ADP核糖基转移酶的物理及功能相互作用。
FEBS Lett. 2003 Nov 6;554(1-2):55-8. doi: 10.1016/s0014-5793(03)01088-3.
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Genetic analyses of two cases of Werner's syndrome.两例沃纳综合征的基因分析。
Eur J Dermatol. 2004 Nov-Dec;14(6):379-82.

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Case Report: A novel mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome.病例报告:一名患有糖尿病足病和骨髓增生异常综合征的沃纳综合征患者的新型突变。
Front Endocrinol (Lausanne). 2022 Jul 15;13:918979. doi: 10.3389/fendo.2022.918979. eCollection 2022.
2
Exacerbated Renal and Hematologic Toxicities to Ifosfamide and Doxorubicin-Based Chemotherapy in a Patient with Retroperitoneal Liposarcoma Harboring a Germline Mutation in the WRN Gene.一名患有腹膜后脂肪肉瘤且携带WRN基因种系突变的患者,对基于异环磷酰胺和阿霉素的化疗出现了加重的肾脏和血液学毒性。
Case Rep Oncol. 2022 Mar 4;15(1):170-175. doi: 10.1159/000521624. eCollection 2022 Jan-Apr.
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Fatal Myelotoxicity Following Palliative Chemotherapy With Cisplatin and Gemcitabine in a Patient With Stage IV Cholangiocarcinoma Linked to Post Mortem Diagnosis of Fanconi Anemia.
一名IV期胆管癌患者在接受顺铂和吉西他滨姑息化疗后发生致命性骨髓毒性,尸检诊断为范可尼贫血。
Front Oncol. 2019 May 22;9:420. doi: 10.3389/fonc.2019.00420. eCollection 2019.
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Successful Cord Blood Transplantation in a Werner Syndrome Patient with High-risk Myelodysplastic Syndrome.一名患有高危骨髓增生异常综合征的沃纳综合征患者成功进行脐血移植
Intern Med. 2019 Jan 1;58(1):109-113. doi: 10.2169/internalmedicine.0317-17. Epub 2018 Aug 24.
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Clinical utility gene card for: Werner Syndrome--Update 2014.维尔纳综合征临床实用基因卡片——2014年更新版
Eur J Hum Genet. 2015 Jun;23(6):891-. doi: 10.1038/ejhg.2014.171. Epub 2014 Sep 3.
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