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1
Challenges in treatment of gestational trophoblastic neoplasia in patients with MTHFR mutation: A case report.甲基四氢叶酸还原酶（MTHFR）突变患者妊娠滋养细胞肿瘤的治疗挑战：一例报告
Gynecol Oncol Rep. 2023 Jun 29;48:101234. doi: 10.1016/j.gore.2023.101234. eCollection 2023 Aug.
2
Presence of the methylenetetrahydrofolate reductase gene polymorphism MTHFR C677T in molar tissue but not maternal blood predicts failure of methotrexate treatment for low-risk gestational trophoblastic neoplasia.亚甲基四氢叶酸还原酶基因多态性 MTHFR C677T 在葡萄胎组织中存在，但母体外周血中不存在，可预测低危型妊娠滋养细胞肿瘤甲氨蝶呤治疗失败。
Eur J Pharmacol. 2017 Jan 5;794:85-91. doi: 10.1016/j.ejphar.2016.11.010. Epub 2016 Nov 11.
3
Surveillance for gestational trophoblastic neoplasia following molar pregnancy: a cost-effectiveness analysis.随访葡萄胎妊娠后妊娠滋养细胞肿瘤：成本效益分析。
Am J Obstet Gynecol. 2021 Nov;225(5):513.e1-513.e19. doi: 10.1016/j.ajog.2021.05.031. Epub 2021 May 29.
4
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Gynecol Oncol. 2011 Dec;123(3):605-9. doi: 10.1016/j.ygyno.2011.08.012. Epub 2011 Sep 13.
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Lancet Oncol. 2021 Aug;22(8):1188-1198. doi: 10.1016/S1470-2045(21)00262-X. Epub 2021 Jun 25.
6
Guideline No. 408: Management of Gestational Trophoblastic Diseases.指南 408：妊娠滋养细胞疾病的管理。
J Obstet Gynaecol Can. 2021 Jan;43(1):91-105.e1. doi: 10.1016/j.jogc.2020.03.001.
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Centralized surveillance of hydatidiform mole: 7-year experience from a regional hospital in China.集中监测葡萄胎：中国一家地区医院 7 年的经验。
Int J Gynecol Cancer. 2022 Feb;32(2):147-152. doi: 10.1136/ijgc-2021-002797. Epub 2021 Nov 19.
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9
Effect of race/ethnicity on clinical presentation and risk of gestational trophoblastic neoplasia in patients with complete and partial molar pregnancy at a tertiary care referral center.种族/民族对三级医疗转诊中心完全性和部分性葡萄胎妊娠患者临床表现和妊娠滋养细胞肿瘤风险的影响。
Am J Obstet Gynecol. 2016 Sep;215(3):334.e1-6. doi: 10.1016/j.ajog.2016.04.019. Epub 2016 Apr 26.
10
Apoptotic index for prediction of postmolar gestational trophoblastic neoplasia.预测绒癌中细胞凋亡指数的价值。
Am J Obstet Gynecol. 2016 Sep;215(3):336.e1-336.e12. doi: 10.1016/j.ajog.2016.04.010. Epub 2016 Apr 16.

本文引用的文献

1
Update on the diagnosis and management of gestational trophoblastic disease.妊娠滋养细胞疾病的诊断和治疗进展。
Int J Gynaecol Obstet. 2018 Oct;143 Suppl 2:79-85. doi: 10.1002/ijgo.12615.
2
The efficacy and safety of first-line single-agent chemotherapy regimens in low-risk gestational trophoblastic neoplasia: A network meta-analysis.一线单药化疗方案治疗低危妊娠滋养细胞肿瘤的疗效和安全性：网状 Meta 分析。
Gynecol Oncol. 2018 Feb;148(2):247-253. doi: 10.1016/j.ygyno.2017.11.031. Epub 2017 Dec 6.
3
Second Curettage for Low-Risk Nonmetastatic Gestational Trophoblastic Neoplasia.低风险非转移性妊娠滋养细胞肿瘤的二次刮宫术
Obstet Gynecol. 2016 Sep;128(3):535-542. doi: 10.1097/AOG.0000000000001554.
4
Chemotherapy for resistant or recurrent gestational trophoblastic neoplasia.耐药或复发性妊娠滋养细胞肿瘤的化疗
Cochrane Database Syst Rev. 2016 Jan 13;2016(1):CD008891. doi: 10.1002/14651858.CD008891.pub3.
5
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases.亚甲基四氢叶酸还原酶（MTHFR）C677T多态性：流行病学、代谢及相关疾病
Eur J Med Genet. 2015 Jan;58(1):1-10. doi: 10.1016/j.ejmg.2014.10.004. Epub 2014 Nov 4.
6
Medical management of ectopic pregnancy: a comparison of regimens.异位妊娠的医学管理：不同治疗方案的比较
Clin Obstet Gynecol. 2012 Jun;55(2):440-7. doi: 10.1097/GRF.0b013e3182510a73.
7
Phase III trial of weekly methotrexate or pulsed dactinomycin for low-risk gestational trophoblastic neoplasia: a gynecologic oncology group study.低危型妊娠滋养细胞肿瘤每周甲氨蝶呤或多柔比星脉冲化疗的 III 期临床试验：一项妇科肿瘤学组研究。
J Clin Oncol. 2011 Mar 1;29(7):825-31. doi: 10.1200/JCO.2010.30.4386. Epub 2011 Jan 24.
8
Correlation between methotrexate efficacy & toxicity with C677T polymorphism of the methylenetetrahydrofolate gene in rheumatoid arthritis patients on folate supplementation.补充叶酸的类风湿关节炎患者中，甲氨蝶呤疗效及毒性与亚甲基四氢叶酸还原酶基因C677T多态性的相关性
Indian J Med Res. 2006 Nov;124(5):521-6.
9
Methylenetetrahydrofolate reductase C677T polymorphism and the risk of unexplained recurrent pregnancy loss: a meta-analysis.亚甲基四氢叶酸还原酶C677T多态性与不明原因复发性流产的风险：一项荟萃分析。
Fertil Steril. 2006 Dec;86(6):1716-22. doi: 10.1016/j.fertnstert.2006.05.052. Epub 2006 Oct 30.
10
Polymorphisms in the methylenetetrahydrofolate reductase gene were associated with both the efficacy and the toxicity of methotrexate used for the treatment of rheumatoid arthritis, as evidenced by single locus and haplotype analyses.单基因座和单倍型分析表明，亚甲基四氢叶酸还原酶基因多态性与用于治疗类风湿关节炎的甲氨蝶呤的疗效和毒性均相关。
Pharmacogenetics. 2002 Apr;12(3):183-90. doi: 10.1097/00008571-200204000-00002.

甲基四氢叶酸还原酶（MTHFR）突变患者妊娠滋养细胞肿瘤的治疗挑战：一例报告

Challenges in treatment of gestational trophoblastic neoplasia in patients with MTHFR mutation: A case report.

作者信息

Patel Jharna M, Glassman Danielle, Sayal Sapna, Girda Eugenia

机构信息

Rutgers Robert Wood Johnson Medical School, USA.

Rutgers the Cancer Institute of New Jersey, USA.

出版信息

Gynecol Oncol Rep. 2023 Jun 29;48:101234. doi: 10.1016/j.gore.2023.101234. eCollection 2023 Aug.

DOI:10.1016/j.gore.2023.101234
PMID:37449086
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10338143/
Abstract

•We present a case of a patient with post molar pregnancy who has a MTHFR C677T mutation.•The mutation led to an alteration of recommended chemotherapy regimen.•No studies have reported treatment recommendations pertaining to gyn malignancies in patients with MTHFR allele.•We present a novel instance where MTHFR mutation altered a patient's treatment for gestational trophoblastic neoplasia.

摘要

•我们报告一例患有磨牙后妊娠且携带MTHFR C677T突变的患者。

•该突变导致了推荐化疗方案的改变。

•尚无研究报道过针对携带MTHFR等位基因患者的妇科恶性肿瘤治疗建议。

•我们展示了一个新的病例，即MTHFR突变改变了一名妊娠滋养细胞肿瘤患者的治疗方案。