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Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature.亚甲基四氢叶酸还原酶缺乏的外科癌症患者的多学科治疗方法及麻醉管理:一例病例报告并文献复习
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Erratum to: Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature.《亚甲基四氢叶酸还原酶缺乏的外科癌症患者的多学科方法与麻醉管理:病例报告及文献综述》勘误
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The protective effect of methylenetetrahydrofolate reductase C677T polymorphism against prostate cancer risk: Evidence from 23 case-control studies.亚甲基四氢叶酸还原酶C677T多态性对前列腺癌风险的保护作用:来自23项病例对照研究的证据。
Gene. 2015 Jul 1;565(1):90-5. doi: 10.1016/j.gene.2015.03.067. Epub 2015 Apr 2.
2
The safety of addition of nitrous oxide to general anaesthesia in at-risk patients having major non-cardiac surgery (ENIGMA-II): a randomised, single-blind trial.高危非心脏手术患者全身麻醉中添加一氧化二氮的安全性(ENIGMA-II):一项随机、单盲试验。
Lancet. 2014 Oct 18;384(9952):1446-54. doi: 10.1016/S0140-6736(14)60893-X.
3
Association between MTHFR gene polymorphism and the risk of ovarian cancer: a meta-analysis of the literature.亚甲基四氢叶酸还原酶(MTHFR)基因多态性与卵巢癌风险的关联:文献荟萃分析
Curr Pharm Des. 2014;20(11):1632-8. doi: 10.2174/13816128113199990564.
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Association of methylenetetrahydrofolate reductase C677T and A1298C polymorphisms with colorectal cancer risk: A meta-analysis.亚甲基四氢叶酸还原酶C677T和A1298C基因多态性与结直肠癌风险的关联:一项荟萃分析。
Biomed Rep. 2013 Sep;1(5):781-791. doi: 10.3892/br.2013.134. Epub 2013 Jul 15.
5
Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer.亚甲基四氢叶酸还原酶基因多态性与结肠癌的个体内体变异。
Pharmacogenomics. 2014 Feb;15(3):349-59. doi: 10.2217/pgs.14.4.
6
Influence of nitrous oxide anesthesia, B-vitamins, and MTHFR gene polymorphisms on perioperative cardiac events: the vitamins in nitrous oxide (VINO) randomized trial.氧化亚氮麻醉、B 族维生素和 MTHFR 基因多态性对围手术期心脏事件的影响:氧化亚氮中的维生素(VINO)随机试验。
Anesthesiology. 2013 Jul;119(1):19-28. doi: 10.1097/ALN.0b013e31829761e3.
7
MTHFR C677T and A1298C polymorphisms and cervical carcinoma susceptibility: meta-analyses based on 4,421 individuals.MTHFR C677T 和 A1298C 多态性与宫颈癌易感性:基于 4421 个人的荟萃分析。
Mol Biol Rep. 2012 Sep;39(9):8723-32. doi: 10.1007/s11033-012-1732-7. Epub 2012 Jun 19.
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Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects.同型半胱氨酸和叶酸代谢概述。特别提到心血管疾病和神经管缺陷。
J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
9
Venous thromboembolism and prognosis in cancer.静脉血栓栓塞症与癌症预后。
Thromb Res. 2010 Jun;125(6):490-3. doi: 10.1016/j.thromres.2009.12.023. Epub 2010 Jan 25.
10
Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy.亚甲基四氢叶酸还原酶 C677T 和 A1298C 多态性与结直肠癌风险、肿瘤的遗传和表观遗传特征以及对化疗的反应的关系。
Int J Colorectal Dis. 2010 Feb;25(2):141-51. doi: 10.1007/s00384-009-0779-y. Epub 2009 Aug 11.

亚甲基四氢叶酸还原酶缺乏的外科癌症患者的多学科治疗方法及麻醉管理:一例病例报告并文献复习

Multidisciplinary approach and anesthetic management of a surgical cancer patient with methylene tetrahydrofolate reductase deficiency: a case report and review of the literature.

作者信息

Cascella Marco, Arcamone Manuela, Morelli Emanuela, Viscardi Daniela, Russo Viera, De Franciscis Silvia, Belli Andrea, Accardo Rosanna, Caliendo Domenico, De Luca Elena, Di Caprio Barbara, Di Sauro Francesco, Giannoni Giovanni, Iermano Carmine, Maciariello Maria, Marracino Marcella, Cuomo Arturo

机构信息

Division of Anesthesia, Department of Anesthesia, Endoscopy and Cardiology, Istituto Nazionale Tumori "Fondazione G. Pascale" - IRCSS, Naples, Italy.

Division of Haematology-Oncology and Stem Cell Transplantation Unit, Istituto Nazionale Tumori "Fondazione G. Pascale" - IRCSS, Naples, Italy.

出版信息

J Med Case Rep. 2015 Aug 20;9:175. doi: 10.1186/s13256-015-0662-0.

DOI:10.1186/s13256-015-0662-0
PMID:26289647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4546078/
Abstract

INTRODUCTION

Hyperhomocysteinemia is a known risk factor for myocardial infarction, stroke, peripheral vascular disease, and thrombosis. Elevated plasma homocysteine levels have been demonstrated in patients with recurrent episodes or a single episode of thrombosis. Here we describe the development of cardiovascular disease as a complication of a surgical intervention in a patient with colorectal cancer and hyperhomocysteinemia.

CASE PRESENTATION

A 65-year-old Caucasian man complained of pain and constipation, attributed to previously diagnosed adenocarcinoma (stage IIB) of the hepatic flexure. An anamnestic investigation showed that he had undergone two surgical interventions. During both, he suffered thrombotic postoperative complications, a deep vein thrombosis of the upper extremity after the first operation and retinal vein occlusion after the second. He was diagnosed with hyperhomocysteinemia associated with a homozygous C677T mutation of the gene encoding the enzyme methylenetetrahydrofolate reductase. Our patient was initially treated with folic acid and high-dose B vitamins. On day 7 he underwent a right hemicolectomy. Anesthesia was performed with sevoflurane in 40% O2 and without the use of nitrous oxide. Postoperatively, our patient remained on folic acid and B vitamins and was without immediate or subsequent complications.

CONCLUSIONS

Neoplastic disease and related surgery followed by the administration of chemotherapeutic drugs alter the hemostatic balance in cancer patients. Those suspected of also having a thrombophilic disease require a thorough laboratory diagnostic workup, including a molecular analysis aimed at identifying the genetic mutation responsible for the hyperhomocysteinemia, as indicated. The case described in this report highlights the importance of a multidisciplinary approach that includes expertise in peri-operative anesthesia, surgery, oncology, and hematology.

摘要

引言

高同型半胱氨酸血症是心肌梗死、中风、外周血管疾病和血栓形成的已知危险因素。复发性血栓形成或单次血栓形成发作的患者血浆同型半胱氨酸水平升高已得到证实。在此,我们描述了一名患有结直肠癌和高同型半胱氨酸血症的患者在手术干预后发生心血管疾病并发症的情况。

病例介绍

一名65岁的白种男性因先前诊断的肝曲部腺癌(IIB期)出现疼痛和便秘。既往史调查显示他曾接受过两次手术。两次手术期间,他均出现血栓形成的术后并发症,第一次手术后出现上肢深静脉血栓形成,第二次手术后出现视网膜静脉阻塞。他被诊断为与编码亚甲基四氢叶酸还原酶的基因纯合C677T突变相关的高同型半胱氨酸血症。我们的患者最初接受叶酸和高剂量B族维生素治疗。在第7天,他接受了右半结肠切除术。麻醉采用七氟醚在40%氧气中进行,未使用氧化亚氮。术后,我们的患者继续服用叶酸和B族维生素,未出现即刻或后续并发症。

结论

肿瘤疾病及相关手术,随后给予化疗药物,会改变癌症患者的止血平衡。那些怀疑同时患有血栓形成倾向疾病的患者需要进行全面的实验室诊断检查,包括如所示旨在鉴定导致高同型半胱氨酸血症的基因突变的分子分析。本报告中描述的病例突出了多学科方法的重要性,该方法包括围手术期麻醉、外科、肿瘤学和血液学方面的专业知识。