Mini-Review Article

免疫检查点抑制剂时代作为结直肠癌预后预测因子的微卫星不稳定性

卷 22, 期 9, 2021

发表于: 24 March, 2021

页: [968 - 976] 页: 9

弟呕挨: 10.2174/1389450122666210325121322

价格: $65

摘要

由DNA错配修复蛋白的错误导致的微卫星不稳定表型占非遗传性结肠癌的15-20%,但在直肠癌中很少。已经表明,肿瘤特异性新抗原在高突变肿瘤中的存在增加与较高的肿瘤浸润淋巴细胞和免疫检查点受体和配体(主要是PD-1和PD-L1)的过度表达相关。特别是,迄今获得的数据表明,新抗原识别是免疫治疗过程中的一个主要组成部分。本综述的主要目的是描述目前批准的微卫星不稳定结直肠癌免疫肿瘤治疗的结果,并总结目前的知识。次要目标是给出一份关于测试方法、预测和微卫星不稳定性预测价值的叙述性报告。为此,进行了一项文献综述,重点是已发表的临床试验结果、正在进行的临床试验和时间表、试验方法以及MSI的预后和预测价值。继美国食品和药物管理局最近四次批准对MSI高的结直肠癌进行免疫治疗后,病理学会应保证进一步的工作,以实现标准化,提高IHC/MSI检测领域的一致性和可重复性,从而促进专业人员为结肠直肠癌患者提供更好的生存选择。

关键词: 结直肠癌,微卫星不稳定性,错配修复,免疫疗法,生物标志物,表型。

图形摘要
[1]
Jamal-Hanjani M, Quezada SA, Larkin J, Swanton C. Translational implications of tumor heterogeneity. Clin Cancer Res 2015; 21(6): 1258-66.
[http://dx.doi.org/10.1158/1078-0432.CCR-14-1429] [PMID: 25770293]
[2]
Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 2017; 357(6349): 409-13.
[http://dx.doi.org/10.1126/science.aan6733] [PMID: 28596308]
[3]
Bogaert J, Prenen H. Molecular genetics of colorectal cancer. Ann Gastroenterol 2014; 27(1): 9-14.
[PMID: 24714764]
[4]
Roberts SA, Gordenin DA. Hypermutation in human cancer genomes: footprints and mechanisms. Nat Rev Cancer 2015; 15(11): 694.
[http://dx.doi.org/10.1038/nrc4028] [PMID: 25568919]
[5]
Lee V, Murphy A, Le DT, Diaz LA Jr. Mismatch repair deficiency and response to immune checkpoint blockade. Oncologist 2016; 21(10): 1200-11.
[http://dx.doi.org/10.1634/theoncologist.2016-0046] [PMID: 27412392]
[6]
Carethers JM, Jung BH. Genetics and genetic biomarkers in sporadic colorectal cancer. Gastroenterology 2015; 149(5): 1177-1190.e3.
[http://dx.doi.org/10.1053/j.gastro.2015.06.047] [PMID: 26216840]
[7]
Popat S, Hubner R, Houlston RS. Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol 2005; 23(3): 609-18.
[http://dx.doi.org/10.1200/JCO.2005.01.086] [PMID: 15659508]
[8]
Goldstein J, Tran B, Ensor J, et al. Multicenter retrospective analysis of metastatic colorectal cancer (CRC) with high-level microsatellite instability (MSI-H). Ann Oncol 2014; 25(5): 1032-8.
[http://dx.doi.org/10.1093/annonc/mdu100] [PMID: 24585723]
[9]
Strickland KC, Howitt BE, Shukla SA, et al. Association and prognostic significance of BRCA1/2-mutation status with neoantigen load, number of tumor-infiltrating lymphocytes and expression of PD-1/PD-L1 in high grade serous ovarian cancer. Oncotarget 2016; 7(12): 13587-98.
[http://dx.doi.org/10.18632/oncotarget.7277] [PMID: 26871470]
[10]
Scarpa M, Ruffolo C, Canal F, et al. Mismatch repair gene defects in sporadic colorectal cancer enhance immune surveillance. Oncotarget 2015; 6(41): 43472-82.
[http://dx.doi.org/10.18632/oncotarget.6179] [PMID: 26496037]
[11]
Bobisse S, Foukas PG, Coukos G, Harari A. Neoantigen-based cancer immunotherapy. Ann Transl Med 2016; 4(14): 262.
[http://dx.doi.org/10.21037/atm.2016.06.17] [PMID: 27563649]
[12]
Le DT, Uram JN, Wang H, et al. PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 2015; 372(26): 2509-20.
[http://dx.doi.org/10.1056/NEJMoa1500596] [PMID: 26028255]
[13]
Tóth G, Gáspári Z, Jurka J. Microsatellites in different eukaryotic genomes: survey and analysis. Genome Res 2000; 10(7): 967-81.
[http://dx.doi.org/10.1101/gr.10.7.967] [PMID: 10899146]
[14]
Hughes LA, Melotte V, de Schrijver J, et al. The CpG island methylator phenotype: what’s in a name? Cancer Res 2013; 73(19): 5858-68.
[http://dx.doi.org/10.1158/0008-5472.CAN-12-4306] [PMID: 23801749]
[15]
Jalal S, Earley JN, Turchi JJ. DNA repair: from genome maintenance to biomarker and therapeutic target. Clin Cancer Res 2011; 17(22): 6973-84.
[http://dx.doi.org/10.1158/1078-0432.CCR-11-0761] [PMID: 21908578]
[16]
Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008; 10(4): 293-300.
[http://dx.doi.org/10.2353/jmoldx.2008.080031] [PMID: 18556767]
[17]
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A. Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med 2014; 16(1): 101-16.
[http://dx.doi.org/10.1038/gim.2013.166] [PMID: 24310308]
[18]
Qin Y, Liang L, Zheng X, et al. Value of detection of DNA mismatch repair proteins deficiency by immunohistochemistry in predicting tumor microsatellite status. Zhonghua Bing Li Xue Za Zhi 2015; 44(10): 704-8.
[PMID: 26702526]
[19]
Gan C, Love C, Beshay V, et al. Applicability of next generation sequencing technology in microsatellite instability testing. Genes (Basel) 2015; 6(1): 46-59.
[http://dx.doi.org/10.3390/genes6010046] [PMID: 25685876]
[20]
Richman S. Deficient mismatch repair: Read all about it (Review). Int J Oncol 2015; 47(4): 1189-202.
[http://dx.doi.org/10.3892/ijo.2015.3119] [PMID: 26315971]
[21]
Kawakami H, Zaanan A, Sinicrope FA. Microsatellite instability testing and its role in the management of colorectal cancer. Curr Treat Options Oncol 2015; 16(7): 30.
[http://dx.doi.org/10.1007/s11864-015-0348-2] [PMID: 26031544]
[22]
Lindor NM, Burgart LJ, Leontovich O, et al. Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol 2002; 20(4): 1043-8.
[http://dx.doi.org/10.1200/JCO.2002.20.4.1043] [PMID: 11844828]
[23]
Bai H, Wang R, Cheng W, et al. Evaluation of concordance between deficient mismatch repair and microsatellite instability testing and their association with clinicopathological features in colorectal cancer. Cancer Manag Res 2020; 12: 2863-73.
[http://dx.doi.org/10.2147/CMAR.S248069] [PMID: 32425600]
[24]
Salipante SJ, Scroggins SM, Hampel HL, Turner EH, Pritchard CC. Microsatellite instability detection by next generation sequencing. Clin Chem 2014; 60(9): 1192-9.
[http://dx.doi.org/10.1373/clinchem.2014.223677] [PMID: 24987110]
[25]
Meldrum C, Doyle MA, Tothill RW. Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev 2011; 32(4): 177-95.
[PMID: 22147957]
[26]
Waalkes A, Smith N, Penewit K, et al. Accurate pan-cancer molecular diagnosis of microsatellite instability by single-molecule molecular inversion probe capture and high-throughput sequencing. Clin Chem 2018; 64(6): 950-8.
[http://dx.doi.org/10.1373/clinchem.2017.285981] [PMID: 29632127]
[27]
Zhao P, Li L, Jiang X, Li Q. Mismatch repair deficiency/microsatellite instability-high as a predictor for anti-PD-1/PD-L1 immunotherapy efficacy. J Hematol Oncol 2019; 12(1): 54.
[http://dx.doi.org/10.1186/s13045-019-0738-1] [PMID: 31151482]
[28]
Guastadisegni C, Colafranceschi M, Ottini L, Dogliotti E. Microsatellite instability as a marker of prognosis and response to therapy: a meta-analysis of colorectal cancer survival data. Eur J Cancer 2010; 46(15): 2788-98.
[http://dx.doi.org/10.1016/j.ejca.2010.05.009] [PMID: 20627535]
[29]
Venderbosch S, Nagtegaal ID, Maughan TS, et al. Mismatch repair status and BRAF mutation status in metastatic colorectal cancer patients: a pooled analysis of the CAIRO, CAIRO2, COIN, and FOCUS studies. Clin Cancer Res 2014; 20(20): 5322-30.
[http://dx.doi.org/10.1158/1078-0432.CCR-14-0332] [PMID: 25139339]
[30]
Sinicrope FA, Mahoney MR, Yoon HH, et al. Alliance for Clinical Trials in Oncology. Alliance for clinical trials in oncology. analysis of molecular markers by anatomic tumor site in stage iii colon carcinomas from adjuvant chemotherapy trial NCCTG N0147 (Alliance). Clin Cancer Res 2015; 21(23): 5294-304.
[http://dx.doi.org/10.1158/1078-0432.CCR-15-0527] [PMID: 26187617]
[31]
Kim JE, Hong YS, Kim HJ, et al. Defective mismatch repair status was not associated with dfs and os in stage ii colon cancer treated with adjuvant chemotherapy. Ann Surg Oncol 2015; 22(Suppl. 3): S630-7.
[http://dx.doi.org/10.1245/s10434-015-4807-6] [PMID: 26271397]
[32]
Koncina E, Haan S, Rauh S, Letellier E. Prognostic and predictive molecular biomarkers for colorectal cancer: updates and challenges. Cancers (Basel) 2020; 12(2): 319.
[http://dx.doi.org/10.3390/cancers12020319] [PMID: 32019056]
[33]
Ryan E, Sheahan K, Creavin B, Mohan HM, Winter DC. The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing. Crit Rev Oncol Hematol 2017; 116: 38-57.
[http://dx.doi.org/10.1016/j.critrevonc.2017.05.006] [PMID: 28693799]
[34]
Tougeron D, Mouillet G, Trouilloud I, et al. Efficacy of adjuvant chemotherapy in colon cancer with microsatellite instability: a large multicenter ageo study. J Natl Cancer Inst 2016; 108(7)
[http://dx.doi.org/10.1093/jnci/djv438] [PMID: 26839356]
[35]
Baek DW, Kang BW, Lee SJ, et al. Clinical implications of mismatch repair status in patients with high-risk stage ii colon cancer. In vivo 2019; 33(2): 649-57.
[http://dx.doi.org/10.21873/invivo.11523] [PMID: 30804154]
[36]
Thomas ML, Hewett PJ, Ruszkiewicz AR, Moore JW. Clinicopathological predictors of benefit from adjuvant chemotherapy for stage C colorectal cancer: Microsatellite unstable cases benefit. Asia Pac J Clin Oncol 2015; 11(4): 343-51.
[http://dx.doi.org/10.1111/ajco.12411] [PMID: 26471980]
[37]
Tougeron D, Sueur B, Zaanan A, et al. Association des Gastro-entérologues Oncologues (AGEO). Prognosis and chemosensitivity of deficient MMR phenotype in patients with metastatic colorectal cancer: An AGEO retrospective multicenter study. Int J Cancer 2020; 147(1): 285-96.
[http://dx.doi.org/10.1002/ijc.32879] [PMID: 31970760]
[39]
Marcus L, Lemery SJ, Keegan P, Pazdur R. FDA approval summary: pembrolizumab for the treatment of microsatellite instability-high solid tumors. Clin Cancer Res 2019; 25(13): 3753-8.
[http://dx.doi.org/10.1158/1078-0432.CCR-18-4070] [PMID: 30787022]
[40]
KEYTRUDA prescribing information. Available from: https://www.merck.com/product/usa/pi_circulars/k/keytruda/keytruda_pi.pdf10AUG2020
[41]
Le DT, Kim TW, Van Cutsem E, et al. Phase II open-label study of pembrolizumab in treatment-refractory, microsatellite instability-high/mismatch repair-deficient metastatic colorectal cancer: KEYNOTE-164. J Clin Oncol 2020; 38(1): 11-9. [http://dx.doi.org/10.1200/JCO.19.02107].
[http://dx.doi.org/10.1200/JCO.19.02107] [PMID: 31725351]
[42]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT0256300210AUG2020
[43]
Andre T, Shiu KK, Kim TW, et al. Pembrolizumab versus chemotherapy for microsatellite instability-high/mismatch repair deficient metastatic colorectal cancer: The phase 3 KEYNOTE-177 study. J Clin Oncol 2020; 38 https://meetinglibrary.asco.org/record/186928/abstract 10AUG2020
[45]
Overman MJ, McDermott R, Leach 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. Lancet Oncol 2017; 18(9): 1182-91.
[http://dx.doi.org/10.1016/S1470-2045(17)30422-9] [PMID: 28734759]
[47]
Overman MJ, Lonardi S, Wong KYM, et al. Durable clinical benefit with nivolumab plus ipilimumab in dna mismatch repair-deficient/microsatellite instability-high metastatic colorectal cancer. J Clin Oncol 2018; 36(8): 773-9. [http://dx.doi.org/10.1200/JCO.2017.76.9901].
[http://dx.doi.org/10.1200/JCO.2017.76.9901] [PMID: 29355075]
[49]
Lenz HJ, van Cutsem E, Limon ML, et al. Durable clinical benefit with nivolumab (NIVO) plus low-dose ipilimumab (IPI) as first-line therapy in microsatellite instability-high/mismatch repair deficient (MSI-H/DMMR) metastatic colorectal cancer (mCRC). Oral presentation at ESMO 2018. Available from: https://oncologypro.esmo.org/meeting-resources/esmo-2018-congress/Durable-Clinical-Benefit-With-Nivolumab-NIVO-Plus-Low-Dose-Ipilimumab-IPI-as-First-Line-Therapy-in-Microsatellite-Instability-High-Mismatch-Repair-Deficient-MSI-H-dMMR-Metastatic-Colorectal-Cancer-mCRC10AUG2020
[50]
Lenz HJ, Lonardi S, Zagonel V, et al. Nivolumab (NIVO) + low-dose ipilimumab (IPI) as first-line (1L) therapy in microsatellite instability-high/DNA mismatch repair deficient (MSI-H/dMMR) metastatic colorectal cancer (mCRC): Clinical update. Poster presentation at ASCO 2019 2019; 3521. Available from: http://dx.doi.org/10.1200/JCO.2019.37.15_suppl.3521
[51]
Lenz HJ, Lonardi S, Zagonel V, et al. Nivolumab + low-dose ipilimumab as first-line therapy in microsatellite instability-high/ mismatch repair-deficient metastatic colorectal cancer: 2-year clinical update. ASCO GI 2020 Gastrointestinal Cancers Symposium, Abstract Number 4040 2020. [Available from: https://meetinglibrary.asco.org/record/182822/abstract 10AUG2020
[52]
Cohen R, Bennouna J, Henriques J, et al. RECIST and iRECIST criteria for the evaluation of nivolumab + ipilimumab combination in patients (pts) with microsatellite instability-high/mismatch repair-deficient (MSI/dMMR) metastatic colorectal cancer (mCRC): Results of the GERCOR NIPICOL phase II study. Poster presentation at ASCO-GI 2020. Available from: https://meetinglibrary.asco.org/record/182537/abstract 10AUG2020
[53]
Abdullaev S, André T, Lei M, et al. A phase III study of nivolumab (NIVO), NIVO + ipilimumab (IPI), or chemotherapy (CT) for microsatellite instability-high (MSI-H)/mismatch repair-deficient (dMMR) metastatic colorectal cancer (mCRC): Checkmate 8HW. Journal of Clinical Oncology 2020 38:4_suppl, TPS266-TPS266 (Poster presentation at ASCO-GI 2020. Available from: https://ascopubs.org/doi/abs/10.1200/JCO.2020.38.4_suppl.TPS266
[54]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT04008030 19AUG2020
[55]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02912559 10AUG2020
[56]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02655822 10AUG2020
[57]
Rocha Lima CM, Yothers G, Jacobs SA, et al. A Randomized phase iii study of mfolfox6/bevacizumab combination chemotherapy with or without atezolizumab or atezolizumab monotherapy in the first-line treatment of patients (pts) with deficient dna mismatch repair (dmmr) metastatic colorectal cancer (mcrc): colorectal cancer metastatic dmmr immuno-therapy (COMMIT) Study (NRG- GI004/SWOG-S1610). J Clin Oncol 2020; 38(Suppl 4): TPS260.
[58]
Segal NH, Wainberg ZA, Overman MJ, et al. Safety and clinical activity of durvalumab monotherapy in patients with microsatellite instability–high (MSI-H) tumors. J Clin Oncol 2019. (suppl 4; abstr 670). [Available from: https://ascopubs.org/doi/abs/10.1200/JCO.2019.37.4_suppl.670 10AUG2020
[59]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02754856 10AUG2020
[60]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03435107 10AUG2020
[61]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02669914 10AUG2020
[62]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03101475 10AUG2020
[63]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03802747 10AUG2020
[64]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03122509 10AUG2020
[66]
Chen EX, Jonker DJ, Loree JM, et al. Effect of combined immune checkpoint inhibition vs best supportive care alone in patients with advanced colorectal cancer: The Canadian Cancer Trials Group CO.26 Study. JAMA Oncol 2020; 6(6): 831-8. [http://dx.doi.org/10.1001/jamaoncol.2020.0910].
[http://dx.doi.org/10.1001/jamaoncol.2020.0910] [PMID: 32379280]
[67]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03150706 10AUG2020
[68]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03186326 10AUG2020
[69]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03827044 10AUG2020
[70]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03050814 10AUG2020
[71]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03608046 10AUG2020
[72]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03152565 10AUG2020
[73]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT03258398 10AUG2020
[74]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02586987 10AUG2020
[75]
Clinical Trials gov of the National Library of Medicine. Available from: https://clinicaltrials.gov/ct2/show/NCT02383212 10AUG2020
[76]
André T, de Gramont A, Vernerey D, et al. Adjuvant fluorouracil, leucovorin, and oxaliplatin in stage ii to iii colon cancer: updated 10-year survival and outcomes according to braf mutation and mismatch repair status of the MOSAIC Study. J Clin Oncol 2015; 33(35): 4176-87.
[http://dx.doi.org/10.1200/JCO.2015.63.4238] [PMID: 26527776]
[77]
Sherman SK, Schuitevoerder D, Chan CHF, Turaga KK. Metastatic colorectal cancers with mismatch repair deficiency result in worse survival regardless of peritoneal metastases. Ann Surg Oncol 2020; 27(13): 5074-83.
[http://dx.doi.org/10.1245/s10434-020-08733-x] [PMID: 32583196]
[78]
Rosen EY, Goldman DA, Hechtman JF, et al. TRK fusions are enriched in cancers with uncommon histologies and the absence of canonical driver mutations. Clin Cancer Res 2020; 26(7): 1624-32.
[http://dx.doi.org/10.1158/1078-0432.CCR-19-3165] [PMID: 31871300]
[79]
Deihimi S, Lev A, Slifker M, et al. BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations. Oncotarget 2017; 8(25): 39945-62.
[http://dx.doi.org/10.18632/oncotarget.18098] [PMID: 28591715]
[80]
Vaňková B, Vaněček T, Ptáková N, et al. Targeted next generation sequencing of MLH1-deficient, MLH1 promoter hypermethylated, and BRAF/RAS-wild-type colorectal adenocarcinomas is effective in detecting tumors with actionable oncogenic gene fusions. Genes Chromosomes Cancer 2020; 59(10): 562-8.
[http://dx.doi.org/10.1002/gcc.22861] [PMID: 32427409]
[81]
Luchini C, Bibeau F, Ligtenberg MJL, et al. ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol 2019; 30(8): 1232-43.
[http://dx.doi.org/10.1093/annonc/mdz116] [PMID: 31056702]

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