• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

亚甲基四氢叶酸还原酶(MTHFR)变体与严重的卡培他滨毒性:一例病例报告及文献综述

Methylenetetrahydrofolate Reductase (MTHFR) Variants and Severe Capecitabine Toxicity: A Case Report and Review of Literature.

作者信息

Lingyan Li, Linjun Wang, Wenjun Zhong

机构信息

Oncology, Qiannan People's Hospital, Duyun, CHN.

出版信息

Cureus. 2024 Dec 16;16(12):e75791. doi: 10.7759/cureus.75791. eCollection 2024 Dec.

DOI:10.7759/cureus.75791
PMID:39816293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11734037/
Abstract

Capecitabine is an oral prodrug metabolized into 5-fluorouracil (5-FU) and serves as a representative anticancer agent. While fluoropyrimidine treatment is usually well-tolerated, a subset of patients unfortunately experiences severe and sometimes life-threatening toxicity related to these compounds. This adverse reaction is frequently attributed to partial or complete deficiencies in the dihydropyrimidine dehydrogenase (DPD) enzyme. However, some patients may still suffer from severe toxic effects despite normal DPD screening results when treated with capecitabine. This paper presents the case of a Chinese woman with stage IIIB moderately differentiated adenocarcinoma of the lower rectum (cT3N2aM0) who exhibited severe toxicity after two weeks of neoadjuvant concurrent chemoradiotherapy in TNT mode at a low dose (825mg/m2 bid) of capecitabine. We found that this severe toxicity might be attributable to insufficient methylenetetrahydrofolate reductase (MTHFR) activity. To our knowledge, such reports are scarce in the medical literature concerning the Chinese population.

摘要

卡培他滨是一种口服前体药物,可代谢为5-氟尿嘧啶(5-FU),是一种典型的抗癌药物。虽然氟嘧啶治疗通常耐受性良好,但不幸的是,一部分患者会出现与这些化合物相关的严重且有时危及生命的毒性反应。这种不良反应通常归因于二氢嘧啶脱氢酶(DPD)酶的部分或完全缺乏。然而,一些患者在用卡培他滨治疗时,尽管DPD筛查结果正常,仍可能遭受严重的毒性作用。本文介绍了一名中国女性患者的病例,该患者患有直肠下段IIIB期中度分化腺癌(cT3N2aM0),在以低剂量(825mg/m2 bid)卡培他滨进行TNT模式的新辅助同步放化疗两周后出现严重毒性反应。我们发现这种严重毒性可能归因于亚甲基四氢叶酸还原酶(MTHFR)活性不足。据我们所知,在有关中国人群的医学文献中,此类报告很少见。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6a6/11734037/2ec1acca7e8e/cureus-0016-00000075791-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6a6/11734037/2ec1acca7e8e/cureus-0016-00000075791-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f6a6/11734037/2ec1acca7e8e/cureus-0016-00000075791-i01.jpg

相似文献

1
Methylenetetrahydrofolate Reductase (MTHFR) Variants and Severe Capecitabine Toxicity: A Case Report and Review of Literature.亚甲基四氢叶酸还原酶(MTHFR)变体与严重的卡培他滨毒性:一例病例报告及文献综述
Cureus. 2024 Dec 16;16(12):e75791. doi: 10.7759/cureus.75791. eCollection 2024 Dec.
2
Thymidylate Synthase (TYMS) and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms Associated With Severe Capecitabine Toxicity: The First Case From Saudi Arabia.胸苷酸合成酶(TYMS)和亚甲基四氢叶酸还原酶(MTHFR)基因多态性与卡培他滨严重毒性的相关性:沙特阿拉伯首例病例
Cureus. 2023 Nov 22;15(11):e49215. doi: 10.7759/cureus.49215. eCollection 2023 Nov.
3
Complete DPYD genotyping combined with dihydropyrimidine dehydrogenase phenotyping to prevent fluoropyrimidine toxicity: A retrospective study.进行 DPYD 基因分型联合二氢嘧啶脱氢酶表型检测,以预防氟尿嘧啶类药物毒性:一项回顾性研究。
Cancer Med. 2024 Mar;13(6):e7066. doi: 10.1002/cam4.7066.
4
DPYD genotype-guided dose individualization to improve patient safety of fluoropyrimidine therapy: call for a drug label update.基于二氢嘧啶脱氢酶(DPYD)基因型的剂量个体化以提高氟嘧啶类药物治疗的患者安全性:呼吁更新药品标签
Ann Oncol. 2017 Dec 1;28(12):2915-2922. doi: 10.1093/annonc/mdx411.
5
[Dihydropyrimidine déhydrogenase (DPD) deficiency screening and securing of fluoropyrimidine-based chemotherapies: Update and recommendations of the French GPCO-Unicancer and RNPGx networks].[二氢嘧啶脱氢酶(DPD)缺乏症筛查与基于氟嘧啶的化疗保障:法国GPCO-法国国立癌症研究所联盟和RNPGx网络的更新与建议]
Bull Cancer. 2018 Apr;105(4):397-407. doi: 10.1016/j.bulcan.2018.02.001. Epub 2018 Feb 24.
6
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.基于卡培他滨对一名具有新型二氢嘧啶脱氢酶(DPYD)基因型和完全二氢嘧啶脱氢酶缺乏症患者的治疗。
Int J Cancer. 2018 Jan 15;142(2):424-430. doi: 10.1002/ijc.31065. Epub 2017 Sep 30.
7
Severe adverse events due to dihydropyrimidine dehydrogenase deficiency in a Japanese patient with colon cancer taking capecitabine: a case report.一名服用卡培他滨的日本结肠癌患者因二氢嘧啶脱氢酶缺乏导致的严重不良事件:病例报告
Int Cancer Conf J. 2018 Jun 15;7(4):125-129. doi: 10.1007/s13691-018-0334-1. eCollection 2018 Oct.
8
Is capecitabine safe in patients with gastrointestinal cancer and dihydropyrimidine dehydrogenase deficiency?卡培他滨对患有胃肠道癌且二氢嘧啶脱氢酶缺乏的患者是否安全?
Clin Colorectal Cancer. 2006 Jan;5(5):359-62. doi: 10.3816/CCC.2006.n.007.
9
The Evaluation of Dihydropyrimidine Dehydrogenase Enzyme Level in the Serum of Colorectal Cancer Iraqi Males on Fluoropyrimidine-Based Chemotherapy (Capecitabine).基于氟嘧啶(卡培他滨)化疗的伊拉克男性结直肠癌患者血清中二氢嘧啶脱氢酶水平的评估
Cureus. 2023 Sep 1;15(9):e44534. doi: 10.7759/cureus.44534. eCollection 2023 Sep.
10
A case report of a severe fluoropyrimidine-related toxicity due to an uncommon DPYD variant.一例因罕见的二氢嘧啶脱氢酶(DPYD)变体导致的严重氟嘧啶相关毒性的病例报告。
Medicine (Baltimore). 2019 May;98(21):e15759. doi: 10.1097/MD.0000000000015759.

本文引用的文献

1
Thymidylate Synthase (TYMS) and Methylenetetrahydrofolate Reductase (MTHFR) Gene Polymorphisms Associated With Severe Capecitabine Toxicity: The First Case From Saudi Arabia.胸苷酸合成酶(TYMS)和亚甲基四氢叶酸还原酶(MTHFR)基因多态性与卡培他滨严重毒性的相关性:沙特阿拉伯首例病例
Cureus. 2023 Nov 22;15(11):e49215. doi: 10.7759/cureus.49215. eCollection 2023 Nov.
2
Association of Single-Nucleotide Polymorphisms in Capecitabine Bioactivation Pathway with Adjuvant Therapy Safety in Colorectal Cancer Patients.卡培他滨生物活化途径中的单核苷酸多态性与结直肠癌患者辅助治疗安全性的关联
Pharmaceutics. 2023 Oct 28;15(11):2548. doi: 10.3390/pharmaceutics15112548.
3
Clinical Relevance of Novel Polymorphisms in the Dihydropyrimidine Dehydrogenase () Gene in Patients with Severe Fluoropyrimidine Toxicity: A Spanish Case-Control Study.
二氢嘧啶脱氢酶()基因新型多态性在严重氟尿嘧啶毒性患者中的临床相关性:一项西班牙病例对照研究。
Pharmaceutics. 2021 Nov 29;13(12):2036. doi: 10.3390/pharmaceutics13122036.
4
Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population.在临床实践中进行 DPYD 的抢先筛查:芬兰人群中新发的外显子 4 缺失的高发生率。
Cancer Chemother Pharmacol. 2021 May;87(5):657-663. doi: 10.1007/s00280-021-04236-y. Epub 2021 Feb 5.
5
Dihydropyrimidine Dehydrogenase Deficiency: To Screen or Not to Screen?二氢嘧啶脱氢酶缺乏症:筛查还是不筛查?
J Adv Pract Oncol. 2020 Jan-Feb;11(1):68-73. doi: 10.6004/jadpro.2020.11.1.4. Epub 2020 Jan 1.
6
Dihydropyrimidine Dehydrogenase Testing prior to Treatment with 5-Fluorouracil, Capecitabine, and Tegafur: A Consensus Paper.5-氟尿嘧啶、卡培他滨和替加氟治疗前进行二氢嘧啶脱氢酶检测:共识文件。
Oncol Res Treat. 2020;43(11):628-636. doi: 10.1159/000510258. Epub 2020 Oct 23.
7
Association of C677T and A1298C Polymorphisms and Fluoropyrimidine-induced Toxicity in Mestizo Patients With Metastatic Colorectal Cancer.C677T 和 A1298C 多态性与氟嘧啶类药物诱导的毒性在梅斯蒂索人转移性结直肠癌患者中的相关性。
Anticancer Res. 2020 Aug;40(8):4263-4270. doi: 10.21873/anticanres.14428.
8
DPYD, TYMS and MTHFR Genes Polymorphism Frequencies in a Series of Turkish Colorectal Cancer Patients.一系列土耳其结直肠癌患者中DPYD、TYMS和MTHFR基因的多态性频率
J Pers Med. 2018 Dec 13;8(4):45. doi: 10.3390/jpm8040045.
9
[Clinical outcomes of gastric cancer patients received capecitabine based adjuvant chemotherapy and the corresponding pharmacogenomics analysis].[接受以卡培他滨为基础的辅助化疗的胃癌患者的临床结局及相应的药物基因组学分析]
Zhonghua Yi Xue Za Zhi. 2018 Nov 13;98(42):3420-3425. doi: 10.3760/cma.j.issn.0376-2491.2018.42.009.
10
Capecitabine Toxicity and Dihydropyrimidine Dehydrogenase Deficiency.卡培他滨毒性与二氢嘧啶脱氢酶缺乏症
Am J Ther. 2018 Nov/Dec;25(6):e742-e743. doi: 10.1097/MJT.0000000000000753.