切换至 "中华医学电子期刊资源库"

中华普外科手术学杂志(电子版) ›› 2023, Vol. 17 ›› Issue (03) : 332 -335. doi: 10.3877/cma.j.issn.1674-3946.2023.03.025

综述

林奇综合征的治疗现状及进展
汪必涛1, 王征2, 王国斌1,()   
  1. 1. 430022 武汉,华中科技大学同济医学院附属协和医院胃肠外科
    2. 430022 武汉,华中科技大学同济医学院附属协和医院胃肠外科;430022 武汉,华中科技大学同济医学院附属协和医院组织工程与再生医学研究中心
  • 收稿日期:2022-12-17 出版日期:2023-06-26
  • 通信作者: 王国斌

Treatment status and progress of Lynch syndrome

Bitao Wang1, Zheng Wang2, Guobin Wang1,()   

  1. 1. Department of Gastrointestinal Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan Hubei Province 430022,China
    2. Department of Gastrointestinal Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan Hubei Province 430022,China; Research Center for Tissue Engineering and Regenerative Medicine,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan Hubei Province 430022,China
  • Received:2022-12-17 Published:2023-06-26
  • Corresponding author: Guobin Wang
  • Supported by:
    National Natural Science Foundation of China(82173315, 82072743, 81974382); The Integrated Innovative Team for Major Human Diseases Program of Tongji Medical College, Huazhong University of Science and Technology
引用本文:

汪必涛, 王征, 王国斌. 林奇综合征的治疗现状及进展[J/OL]. 中华普外科手术学杂志(电子版), 2023, 17(03): 332-335.

Bitao Wang, Zheng Wang, Guobin Wang. Treatment status and progress of Lynch syndrome[J/OL]. Chinese Journal of Operative Procedures of General Surgery(Electronic Edition), 2023, 17(03): 332-335.

林奇综合征(LS)是一种遗传性肿瘤综合征。由于LS患者易发生结直肠、妇科及上消化道等部位的肿瘤,且发病早、终生发病率高,因此确诊后选择恰当有效的治疗手段十分重要。目前,手术及化学治疗仍然是LS的主要治疗手段,然而这两种治疗手段的效果仍不理想。而随着免疫治疗的发展,肿瘤疫苗,尤其是移码肽疫苗已初露锋芒,有望转化应用。本文将重点从LS的治疗进展以及预防等方面展开综述。

Lynch syndrome(LS)is a hereditary tumor syndrome. Since LS patients are prone to colorectal,gynecological and upper digestive tract tumors with early onset and high lifetime incidence,it is very important to select appropriate and effective treatment methods after diagnosis. At present,surgery and chemotherapy are still the main treatments for LS,but the effects of these two treatments are still not ideal. With the development of immunotherapy,tumor vaccines,especially the frameshift peptide vaccine,have begun to emerge and are expected to be transformed and applied. This article will focus on the treatment progress and prevention of LS and other aspects of review.

[1]
Forgacova NGazdarica JBudis J,et al. Repurposing non-invasive prenatal testing data:Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome[J]. Oncol Lett202122(5):779.
[2]
Li XLiu GWu W. Recent advances in Lynch syndrome[J]. Exp Hematol Oncol202110(1):37.
[3]
De Vos Tot Nederveen Cappel WHNagengast FMGriffioen G,et al. Surveillance for hereditary nonpolyposis colorectal cancer:a long-term study on 114 families[J]. Dis Colon Rectum200245(12):1588-1594.
[4]
Boland PMYurgelun MBBoland CR. Recent progress in Lynch syndrome and other familial colorectal cancer syndromes[J]. CA Cancer J Clin201868(3):217-231.
[5]
刘超,姬乐,白铁成. MSI状态与Ⅱ期、Ⅳ期结肠癌患者预后及其病理特征的相关性分析及思考[J/CD]. 中华普外科手术学杂志(电子版),201913(03):283-286.
[6]
Wright JDSilver ERTan SX,et al. Cost-effectiveness Analysis of Genotype-Specific Surveillance and Preventive Strategies for Gynecologic Cancers Among Women With Lynch Syndrome[J]. JAMA Netw Open20214(9):e2123616.
[7]
Dominguez-Valentin MCrosbie EJEngel C,et al. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants:a Prospective Lynch Syndrome Database report[J]. Genet Med202123(4):705-712.
[8]
Tougeron DMouillet GTrouilloud I,et al. Efficacy of Adjuvant Chemotherapy in Colon Cancer With Microsatellite Instability:A Large Multicenter AGEO Study[J]. J Nati Cancer Inst2016108(7):djv438.
[9]
Pietrantonio FMiceli RRaimondi A,et al. Individual Patient Data Meta-Analysis of the Value of Microsatellite Instability As a Biomarker in Gastric Cancer[J]. J Clinical Oncol201937(35):3392-3400.
[10]
Han SChok AYPeh DYY,et al. The distinct clinical trajectory,metastatic sites,and immunobiology of microsatellite-instability-high cancers[J]. Front Genet202213:933475.
[11]
孙家琛,陈俊榕,赖明广. 进展期直肠癌新辅助放疗与化放疗联合TME随机对照试验的Meta分析[J/CD]. 中华普外科手术学杂志(电子版),201812(06):485-489.
[12]
Baretti MLe DT. DNA mismatch repair in cancer[J]. Pharmacol Ther2018189:45-62.
[13]
Vilar EScaltriti MBalmaña J,et al. Microsatellite instability due to hMLH1 deficiency is associated with increased cytotoxicity to irinotecan in human colorectal cancer cell lines[J]. Br J Cancer200899(10):1607-1612.
[14]
Mas-Ponte DMccullough MSupek F. Spectrum of DNA mismatch repair failures viewed through the lens of cancer genomics and implications for therapy[J]. Clin Sci(Lond)2022136(5):383-404.
[15]
Cercek ADos Santos Fernandes GRoxburgh CS,et al. Mismatch Repair-Deficient Rectal Cancer and Resistance to Neoadjuvant Chemotherapy[J]. Clin Cancer Res202026(13):3271-3279.
[16]
Reijnen CKüsters-Vandevelde HVNPrinsen CF,et al. Mismatch repair deficiency as a predictive marker for response to adjuvant radiotherapy in endometrial cancer[J]. Gynecol Oncol2019154(1):124-130.
[17]
Overman MJLonardi SWong KYM,et al. Durable Clinical Benefit With Nivolumab Plus Ipilimumab in DNA Mismatch Repair-Deficient/Microsatellite Instability-High Metastatic Colorectal Cancer[J]. J Clin Oncol201836(8):773-779.
[18]
Overman MJMcdermott RLeach JL,et al. Nivolumab in patients with metastatic DNA mismatch repair-deficient or microsatellite instability-high colorectal cancer(CheckMate 142):an open-label,multicentre,phase 2 study[J]. Lancet Oncol201718(9):1182-1191.
[19]
Diaz LAShiu K-KKim T-W,et al. Pembrolizumab versus chemotherapy for microsatellite instability-high or mismatch repair-deficient metastatic colorectal cancer(KEYNOTE-177):final analysis of a randomised,open-label,phase 3 study[J]. Lancet Oncol202223(5):659-670.
[20]
Lenz H-JVan Cutsem ELuisa Limon M,et al. First-Line Nivolumab Plus Low-Dose Ipilimumab for Microsatellite Instability-High/Mismatch Repair-Deficient Metastatic Colorectal Cancer:The Phase II CheckMate 142 Study[J]. J Clin Oncol202240(2):161-170.
[21]
André TLonardi SWong KYM,et al. Nivolumab plus low-dose ipilimumab in previously treated patients with microsatellite instability-high/mismatch repair-deficient metastatic colorectal cancer:4-year follow-up from CheckMate 142[J]. Ann Oncol202233(10):1052-1060.
[22]
Winer AGhatalia PBubes N,et al. Dual Checkpoint Inhibition with Ipilimumab plus Nivolumab After Progression on Sequential PD-1/PDL-1 Inhibitors Pembrolizumab and Atezolizumab in a Patient with Lynch Syndrome,Metastatic Colon,and Localized Urothelial Cancer[J]. Oncologist201924(11):1416-1419.
[23]
Pastor DMSchlom J. Immunology of Lynch Syndrome[J]. Curr Oncol Rep202123(8):96.
[24]
Ding LKim H-JWang Q,et al. PARP Inhibition Elicits STING-Dependent Antitumor Immunity in Brca1-Deficient Ovarian Cancer[J]. Cell Rep201825(11):2972-2980.
[25]
Deshpande MRomanski PARosenwaks Z,et al. Gynecological Cancers Caused by Deficient Mismatch Repair and Microsatellite Instability[J]. Cancers202012(11):3319.
[26]
Ferriss JSWilliams-Brown MY. Immunotherapy:Checkpoint Inhibitors in Lynch-Associated Gynecologic Cancers[J]. Curr Treat Options Oncol201920(10):75.
[27]
Hildebrand LAPierce CJDennis M,et al. Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer[J]. Cancers202113(3):391.
[28]
Reyes-Uribe LWu WGelincik O,et al. Naproxen chemoprevention promotes immune activation in Lynch syndrome colorectal mucosa[J]. Gut202170(3):555-566.
[29]
Chau RDashti SGAit Ouakrim D,et al. Multivitamin,calcium and folic acid supplements and the risk of colorectal cancer in Lynch syndrome[J]. Int J Epidemiol201645(3):940-953.
[30]
Lu KHLoose DSYates MS,et al. Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome[J]. Cancer Prev Res(Phila)20136(8):774-781.
[31]
Balint JPGabitzsch ESRice A,et al. Extended evaluation of a phase 1/2 trial on dosing,safety,immunogenicity,and overall survival after immunizations with an advanced-generation Ad5[E1-,E2b-]-CEA(6D)vaccine in late-stage colorectal cancer[J]. Cancer Immunol Immunother201564(8):977-987.
[32]
Kimura TMckolanis JRDzubinski LA,et al. MUC1 vaccine for individuals with advanced adenoma of the colon:a cancer immunoprevention feasibility study[J]. Cancer Prev Res(Phila)20136(1):18-26.
[33]
Gebert JGelincik OOezcan-Wahlbrink M,et al. Recurrent Frameshift Neoantigen Vaccine Elicits Protective Immunity With Reduced Tumor Burden and Improved Overall Survival in a Lynch Syndrome Mouse Model[J]. Gastroenterology2021161(4):1288-1302.e13.
[34]
Lanuza PMAlonso MHHidalgo S,et al. Adoptive NK Cell Transfer as a Treatment in Colorectal Cancer Patients:Analyses of Tumour Cell Determinants Correlating With Efficacy and in Vivo[J]. Front Immunol202213:890836.
[35]
Kloor MReuschenbach MPauligk C,et al. A Frameshift Peptide Neoantigen-Based Vaccine for Mismatch Repair-Deficient Cancers:A Phase I/IIa Clinical Trial[J]. Clin Cancer Rese202026(17):4503-4510.
[36]
Kloor MMichel SBuckowitz B,et al. Beta2-microglobulin mutations in microsatellite unstable colorectal tumors[J]. Int J Cancer2007121(2):454-458.
[37]
Tikidzhieva ABenner AMichel S,et al. Microsatellite instability and Beta2-Microglobulin mutations as prognostic markers in colon cancer:results of the FOGT-4 trial[J]. Br J Cancer2012106(6):1239-1245.
[38]
Zeytin HEPatel ACRogers CJ,et al. Combination of a poxvirus-based vaccine with a cyclooxygenase-2 inhibitor(celecoxib)elicits antitumor immunity and long-term survival in CEA.Tg/MIN mice[J]. Cancer Res200464(10):3668-3678.
[39]
Massarelli EWilliam WJohnson F,et al. Combining Immune Checkpoint Blockade and Tumor-Specific Vaccine for Patients With Incurable Human Papillomavirus 16-Related Cancer:A Phase 2 Clinical Trial[J]. JAMA Oncol20195(1):67-73.
[40]
Santiago-Sánchez GSHodge JWFabian KP. Tipping the scales:Immunotherapeutic strategies that disrupt immunosuppression and promote immune activation[J]. Front Immunol202213:993624.
[41]
De Geyter C. Assisted reproductive technology:Impact on society and need for surveillance[J]. Best Pract Res Clin Endocrinol Metab201933(1):3-8.
[42]
Fesahat FMontazeri FHoseini SM. Preimplantation genetic testing in assisted reproduction technology[J]. J Gynecol Obstet Hum Reprod202049(5):101723.
[43]
Daina GRamos LObradors A,et al. First successful double-factor PGD for Lynch syndrome:monogenic analysis and comprehensive aneuploidy screening[J]. Clin Genet201384(1):70-73.
[1] 梁晓宗, 江吉勇, 李曼丹, 林海彬, 王昌义. 阔筋膜游离股前外侧穿支皮瓣修复足踝组织缺损[J/OL]. 中华关节外科杂志(电子版), 2024, 18(05): 672-675.
[2] 张舒沁, 陈练. 产后宫腔内妊娠物残留的诊断和临床处理[J/OL]. 中华妇幼临床医学杂志(电子版), 2024, 20(05): 493-497.
[3] 李友, 唐林峰, 杜伟伟, 刘海亮, 余新水, 沈佳宇, 巨积辉. 皮瓣联合掌长肌腱折叠单排三点式固定治疗指背侧创面伴锤状指畸形的临床效果观察[J/OL]. 中华损伤与修复杂志(电子版), 2024, 19(06): 485-490.
[4] 王强, 金光哲, 巨积辉, 王凯, 唐晓强, 吕文涛, 程贺云, 杨林, 王海龙. 超声辅助定位下游离臂内侧皮瓣在修复手指创面中的临床应用[J/OL]. 中华损伤与修复杂志(电子版), 2024, 19(05): 393-397.
[5] 刘敏, 唐恩溢, 刘喆, 葛苏蒙, 刘梅, 孙国文. 计算机导航技术在口腔颌面部微小异物取出手术中的应用[J/OL]. 中华口腔医学研究杂志(电子版), 2024, 18(06): 375-379.
[6] 严华悦, 刘子祥, 周少波. 磷酸烯醇式丙酮酸羧激酶-1在恶性肿瘤中的研究进展[J/OL]. 中华普通外科学文献(电子版), 2024, 18(06): 452-456.
[7] 孙莲, 马红萍, 吴文英. 局部进展期甲状腺癌患者外科处理[J/OL]. 中华普外科手术学杂志(电子版), 2025, 19(01): 112-114.
[8] 赵毅, 李昶田, 唐文博, 白雪婷, 刘荣. 腹腔镜术中超声主胰管自动识别模型的临床应用[J/OL]. 中华腔镜外科杂志(电子版), 2024, 17(05): 290-294.
[9] 刘卓, 张宗明, 张翀, 刘立民, 赵月, 齐晖. 腹腔镜手术治疗高龄急性梗阻性化脓性胆管炎患者的安全性与术式选择[J/OL]. 中华肝脏外科手术学电子杂志, 2024, 13(06): 795-800.
[10] 陈伟杰, 何小东. 胆囊癌免疫靶向治疗进展[J/OL]. 中华肝脏外科手术学电子杂志, 2024, 13(06): 763-768.
[11] 陈宗杰, 胡添松. 肝外伤破裂患者治疗后胆漏发生影响因素分析[J/OL]. 中华肝脏外科手术学电子杂志, 2024, 13(06): 836-840.
[12] 王妍, 李征, 卓奇峰, 周陈杰, 吉顺荣, 徐晓武, 陈洁, 虞先濬. 微小无功能性胰腺神经内分泌瘤外科治疗进展[J/OL]. 中华肝脏外科手术学电子杂志, 2024, 13(05): 607-614.
[13] 李宜璐, 曹永丽, 杨阳, 王思远, 张远耀, 杨维维, 王信琛, 陈俊, 魏东. 腹腔镜盆底修复联合PPH 术治疗直肠内脱垂的手术疗效观察[J/OL]. 中华结直肠疾病电子杂志, 2024, 13(05): 394-401.
[14] 芦煜, 李振宇, 吴承东, 周仲伍. 肛周子宫内膜异位症一例报告[J/OL]. 中华结直肠疾病电子杂志, 2024, 13(05): 431-434.
[15] 吴天宇, 刘子璇, 杨浦鑫, 贾思明, 丁凯, 程晓东, 李泳龙, 陈伟, 吕红芝, 张奇. 腰椎间盘突出症保守治疗进展[J/OL]. 中华老年骨科与康复电子杂志, 2024, 10(06): 379-384.
阅读次数
全文


摘要


AI


AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?