Identifying and clinically validating biomarkers for immunotherapy in colorectal cancer

References

• Guo M, Jin N, Pawlik T, et al. Neoadjuvant chemotherapy for colorectal liver metastases: a contemporary review of the literature. World J Gastrointest Oncol. 2021;13(9):1043–1061.
   PubMedGoogle Scholar
• Siegel RL, et al. Cancer statistics, 2022. CA Cancer J Clin. 2022;72(1):7–33.
   PubMed Web of Science ®Google Scholar
• Ogunwobi OO, Mahmood F, Akingboye A. Biomarkers in colorectal cancer: current research and future prospects. Int J Mol Sci. 2020;21(15):5311.
   PubMed Web of Science ®Google Scholar
• Arnold M, et al. Global patterns and trends in colorectal cancer incidence and mortality. Gut. 2017;66(4):683–691.
   PubMed Web of Science ®Google Scholar
• Benson AB, et al. Colon Cancer, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(3):329–359.
   PubMed Web of Science ®Google Scholar
• Lee WS, et al. Pulmonary resection for metastases from colorectal cancer: prognostic factors and survival. Int J Colorectal Dis. 2007;22(6):699–704.
   PubMedGoogle Scholar
• Huang MY, et al. Clinical implications and future perspectives of circulating tumor cells and biomarkers in clinical outcomes of colorectal cancer. Transl Oncol. 2016;9(4):340–347.
   PubMedGoogle Scholar
• Liao L, et al. By characterizing metabolic and immune microenvironment reveal potential prognostic markers in the development of colorectal cancer. Front Bioeng Biotechnol. 2022;10:822835.
   PubMedGoogle Scholar
• Baraibar I, et al. Incorporating traditional and emerging biomarkers in the clinical management of metastatic colorectal cancer: an update. Expert Rev Mol Diagn. 2020;20(7):653–664.
   PubMed Web of Science ®Google Scholar
• Carlsen L, Huntington KE, El-Deiry WS. Immunotherapy for colorectal cancer: mechanisms and predictive biomarkers. Cancers (Basel). 2022;14(4):1028.
   PubMed Web of Science ®Google Scholar
• Tsai H-L, Chen Y-C, Yin T-C, et al. Comparison of UGT1A1 polymorphism as guidance of irinotecan dose escalation in RAS wild-type metastatic colorectal cancer patients treated with cetuximab or bevacizumab plus FOLFIRI as the first-line therapy. Oncol Res. 2022;29(1):47–61.
   PubMedGoogle Scholar
• Cercek A, Lumish M, Sinopoli J, et al. PD-1 blockade in mismatch repair–deficient, locally advanced rectal cancer. N Engl J Med. 2022;386(25):2363–2376.
   PubMed Web of Science ®Google Scholar
• Branchoux S, Sofeu CL, Gaudin A-F, et al. Time to next treatment or death as a candidate surrogate endpoint for overall survival in advanced melanoma patients treated with immune checkpoint inhibitors: an insight from the phase III CheckMate 067 trial. ESMO Open. 2022;7(1):100340.
   PubMed Web of Science ®Google Scholar
• Antonia SJ, Villegas A, Daniel D, et al. Durvalumab after chemoradiotherapy in stage III Non–small-cell lung cancer. N Engl J Med. 2017;377(20):1919–1929.
   PubMed Web of Science ®Google Scholar
• Chen -H-H, Ke T-W, Huang C-W, et al. Taiwan Society of Colon and Rectal Surgeons consensus on mCRC treatment. Front Oncol. 2021;11:764912.
   PubMedGoogle Scholar
• Tsai HL, et al. Determination of the UGT1A1 polymorphism as guidance for irinotecan dose escalation in metastatic colorectal cancer treated with first-line bevacizumab and FOLFIRI (PURE FIST). Eur J Cancer. 2020;138:19–29.
   PubMed Web of Science ®Google Scholar
• Berger MD, Lenz HJ. The safety of monoclonal antibodies for treatment of colorectal cancer. Expert Opin Drug Saf. 2016;15(6):799–808.
   PubMed Web of Science ®Google Scholar
• Patel TH, et al. FDA approval summary: pemigatinib for previously treated, unresectable locally advanced or metastatic cholangiocarcinoma with FGFR2 fusion or other rearrangement. Clin Cancer Res. 2022;CCR-22–2036.
   Google Scholar
• Overman MJ, 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):1182–1191.
   PubMed Web of Science ®Google Scholar
• Weng J, et al. Exploring immunotherapy in colorectal cancer. J Hematol Oncol. 2022;15(1):95.
   PubMedGoogle Scholar
• Benatti P, et al. Microsatellite instability and colorectal cancer prognosis. Clin Cancer Res. 2005;11(23):8332–8340.
   PubMed Web of Science ®Google Scholar
• Venderbosch S, 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):5322–5330.
   PubMed Web of Science ®Google Scholar
• André T, 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):4176–4187.
   PubMed Web of Science ®Google Scholar
• Marisa L, et al. The balance between cytotoxic t-cell lymphocytes and immune checkpoint expression in the prognosis of colon tumors. J Natl Cancer Inst. 2018;110:1.
   Google Scholar
• Mazzoli G, et al. Prognostic impact of performance status on the outcomes of immune checkpoint inhibition strategies in patients with dMMR/MSI-H metastatic colorectal cancer. Eur J Cancer. 2022;172:171–181.
   PubMedGoogle Scholar
• Lenz HJ, 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 Clin Oncol. 2022;40(2):161–170.
   PubMed Web of Science ®Google Scholar
• Overman MJ, 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):773–779.
   PubMed Web of Science ®Google Scholar
• Huyghe N, et al. Biomarkers of response and resistance to immunotherapy in microsatellite stable colorectal cancer: toward a new personalized medicine. Cancers (Basel). 2022;14(9):2241.
   PubMedGoogle Scholar
• Brahmer JR, et al. Phase I study of single-agent anti-programmed death-1 (MDX-1106) in refractory solid tumors: safety, clinical activity, pharmacodynamics, and immunologic correlates. J Clin Oncol. 2010;28(19):3167–3175.
   PubMed Web of Science ®Google Scholar
• Lipson EJ, et al. Durable cancer regression off-treatment and effective reinduction therapy with an anti-PD-1 antibody. Clin Cancer Res. 2013;19(2):462–468.
   PubMed Web of Science ®Google Scholar
• Trullas A, et al. The EMA assessment of pembrolizumab as monotherapy for the first-line treatment of adult patients with metastatic microsatellite instability-high or mismatch repair deficient colorectal cancer. ESMO Open. 2021;6(3):100145.
   PubMed Web of Science ®Google Scholar
• André T, et al. Pembrolizumab in microsatellite-instability-high advanced colorectal cancer. N Engl J Med. 2020;383(23):2207–2218.
   PubMed Web of Science ®Google Scholar
• Diaz LA Jr, 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. Lancet Oncol. 2022;23(5):659–670.
   PubMed Web of Science ®Google Scholar
• Chalabi M, et al. Neoadjuvant immunotherapy leads to pathological responses in MMR-proficient and MMR-deficient early-stage colon cancers. Nat Med. 2020;26(4):566–576.
   PubMed Web of Science ®Google Scholar
• Demisse R, et al. Neoadjuvant immunotherapy-based systemic treatment in MMR-deficient or MSI-high rectal cancer: case series. J Natl Compr Canc Netw. 2020;18(7):798–804.
   PubMed Web of Science ®Google Scholar
• Agarwal P, Le DT, Boland PM. Immunotherapy in colorectal cancer. Adv Cancer Res. 2021;151:137–196.
   PubMedGoogle Scholar
• Wang P, et al. Novel Anti-LY6G6D/CD3 T-cell-dependent bispecific antibody for the treatment of colorectal cancer. Mol Cancer Ther. 2022;21(6):974–985.
   PubMedGoogle Scholar
• Kishore C, Bhadra P. Current advancements and future perspectives of immunotherapy in colorectal cancer research. Eur J Pharmacol. 2021;893:173819.
   PubMed Web of Science ®Google Scholar
• Gurzu S, et al. Serrated pathway adenocarcinomas: molecular and immunohistochemical insights into their recognition. PLoS One. 2013;8(3):e57699.
   PubMedGoogle Scholar
• Neumann J, Reu S, Kirchner T. Prognostic marker profiles for risk of distant metastases in colorectal cancer. Pathologe. 2012;33(1):39–44.
   PubMedGoogle Scholar
• Wang S, et al. Screening and identification of immune-related genes for immunotherapy and prognostic assessment in colorectal cancer patients. BMC Med Genomics. 2022;15(1):177.
   PubMedGoogle Scholar
• Marabelle A, et al. Association of tumour mutational burden with outcomes in patients with advanced solid tumours treated with pembrolizumab: prospective biomarker analysis of the multicohort, open-label, phase 2 KEYNOTE-158 study. Lancet Oncol. 2020;21(10):1353–1365.
   PubMed Web of Science ®Google Scholar
• Samstein RM, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019;51(2):202–206.
   PubMed Web of Science ®Google Scholar
• Cristescu R, et al. Pan-tumor genomic biomarkers for PD-1 checkpoint blockade-based immunotherapy. Science. 2018;362(6411):eaar3593.
   PubMed Web of Science ®Google Scholar
• Garon EB, et al. Pembrolizumab for the treatment of non-small-cell lung cancer. N Engl J Med. 2015;372(21):2018–2028.
   PubMed Web of Science ®Google Scholar
• Damato A, et al. New potential immune biomarkers in the era of precision medicine: lights and shadows in colorectal cancer. Life (Basel). 2022;12(8):1137.
   PubMedGoogle Scholar
• Taube JM, et al. Association of PD-1, PD-1 ligands, and other features of the tumor immune microenvironment with response to anti-PD-1 therapy. Clin Cancer Res. 2014;20(19):5064–5074.
   PubMed Web of Science ®Google Scholar
• Guo W, et al. Self-assembly of a multifunction DNA tetrahedron for effective delivery of aptamer PL1 and Pcsk9 siRNA potentiate immune checkpoint therapy for colorectal cancer. ACS Appl Mater Interfaces. 2022;14(28):31634–31644.
   PubMedGoogle Scholar
• Intlekofer AM, Thompson CB. At the bench: preclinical rationale for CTLA-4 and PD-1 blockade as cancer immunotherapy. J Leukoc Biol. 2013;94(1):25–39.
   PubMed Web of Science ®Google Scholar
• Takahashi H, et al. A combination of stromal PD-L1 and tumoral nuclear β-catenin expression as an indicator of colorectal carcinoma progression and resistance to chemoradiotherapy in locally advanced rectal carcinoma. J Pathol Clin Res. 2022;8(5):458–469.
   PubMedGoogle Scholar
• Droeser RA, et al. Clinical impact of programmed cell death ligand 1 expression in colorectal cancer. Eur J Cancer. 2013;49(9):2233–2242.
   PubMed Web of Science ®Google Scholar
• Shun-Long O, et al. Safety and efficacy of programmed cell death 1 and programmed death ligand-1 inhibitors in the treatment of cancer: an overview of systematic reviews. Front Immunol. 2022;13:953761.
   PubMedGoogle Scholar
• Liang L, et al. Integrating tumor mutational burden and transcriptome expression into prediction of immune checkpoint inhibitor response and prognosis of patients with colon cancer. J Physiol Pharmacol. 2022;73:2.
   Google Scholar
• Fusco MJ, West HJ, Walko CM. Tumor mutation burden and cancer treatment. JAMA Oncol. 2021;7(2):316.
   PubMedGoogle Scholar
• Su WC, et al. Comparison of next-generation sequencing and polymerase chain reaction for personalized treatment-related genomic status in patients with metastatic colorectal cancer. Curr Issues Mol Biol. 2022;44(4):1552–1563.
   PubMedGoogle Scholar
• Fares J, et al. Molecular principles of metastasis: a hallmark of cancer revisited. Signal Transduct Target Ther. 2020;5(1):28.
   PubMed Web of Science ®Google Scholar
• Vinayak S, et al. Open-label clinical trial of niraparib combined with pembrolizumab for treatment of advanced or metastatic triple-negative breast cancer. JAMA Oncol. 2019;5(8):1132–1140.
   PubMed Web of Science ®Google Scholar
• Sha D, et al. Tumor mutational burden as a predictive biomarker in solid tumors. Cancer Discov. 2020;10(12):1808–1825.
   PubMed Web of Science ®Google Scholar
• Marcus L, et al. FDA approval summary: pembrolizumab for the treatment of tumor mutational burden-high solid tumors. Clin Cancer Res. 2021;27(17):4685–4689.
   PubMed Web of Science ®Google Scholar
• Hennequart M, et al. Constitutive IDO1 expression in human tumors is driven by cyclooxygenase-2 and mediates intrinsic immune resistance. Cancer Immunol Res. 2017;5(8):695–709.
   PubMedGoogle Scholar
• Lombardi G, et al. Pembrolizumab activity in recurrent high-grade gliomas with partial or complete loss of mismatch repair protein expression: a monocentric, observational and prospective pilot study. Cancers (Basel). 2020;12(8):2283.
   PubMed Web of Science ®Google Scholar
• Yang T, Kong Z, Ma W. PD-1/PD-L1 immune checkpoint inhibitors in glioblastoma: clinical studies, challenges and potential. Hum Vaccin Immunother. 2021;17(2):546–553.
   PubMed Web of Science ®Google Scholar
• Blaeschke F, et al. Low mutational load in pediatric medulloblastoma still translates into neoantigens as targets for specific T-cell immunotherapy. Cytotherapy. 2019;21(9):973–986.
   PubMedGoogle Scholar
• Wang P, Chen Y, Wang C. Beyond tumor mutation burden: tumor neoantigen burden as a biomarker for immunotherapy and other types of therapy. Front Oncol. 2021;11:672677.
   PubMedGoogle Scholar
• Ma X, et al. POLE/POLD1 mutation and tumor immunotherapy. J Exp Clin Cancer Res. 2022;41(1):216.
   PubMedGoogle Scholar
• Rousseau B, Vidal J, Diaz LA Jr. Evaluation of POLE/POLD1 Variants as potential biomarkers for immune checkpoint inhibitor treatment outcomes. JAMA Oncol. 2020;6(4):589–590.
   PubMedGoogle Scholar
• Keshinro A, et al. Tumor-infiltrating lymphocytes, tumor mutational burden, and genetic alterations in microsatellite unstable, microsatellite stable, or mutant POLE/POLD1 colon cancer. JCO Precis Oncol. 2021;5:817–826.
   Google Scholar
• Guinney J, et al. The consensus molecular subtypes of colorectal cancer. Nat Med. 2015;21(11):1350–1356.
   PubMed Web of Science ®Google Scholar
• Gurzu S, et al. Systematic review of the old and new concepts in the epithelial-mesenchymal transition of colorectal cancer. World J Gastroenterol. 2016;22(30):6764–6775.
   PubMed Web of Science ®Google Scholar
• Banias L, et al. Immunohistochemical-based molecular subtyping of colorectal carcinoma using maspin and markers of epithelial-mesenchymal transition. Oncol Lett. 2020;19(2):1487–1495.
   PubMed Web of Science ®Google Scholar
• Lui YY, et al. Predominant hematopoietic origin of cell-free DNA in plasma and serum after sex-mismatched bone marrow transplantation. Clin Chem. 2002;48(3):421–427.
   PubMed Web of Science ®Google Scholar
• Zheng YW, et al. Nonhematopoietically derived DNA is shorter than hematopoietically derived DNA in plasma: a transplantation model. Clin Chem. 2012;58(3):549–558.
   PubMed Web of Science ®Google Scholar
• Min L, et al. Using circulating tumor DNA as a novel biomarker to screen and diagnose colorectal cancer: a meta-analysis. J Clin Med. 2023;12(2):408.
   PubMedGoogle Scholar
• Bodenstine TM, et al. Maspin: molecular mechanisms and therapeutic implications. Cancer Metastasis Rev. 2012;31(3–4):529–551.
   PubMedGoogle Scholar
• Khorsandi L, Farasat M. Zinc oxide nanoparticles enhance expression of maspin in human breast cancer cells. Environ Sci Pollut Res Int. 2020;27(30):38300–38310.
   PubMedGoogle Scholar
• Gurzu S, Jung I. Subcellular expression of maspin in colorectal cancer: friend or foe. Cancers (Basel). 2021;13(3):366.
   PubMedGoogle Scholar
• Banias L, et al. Nuclear maspin expression: a biomarker for budding assessment in colorectal cancer specimens. Pathol Res Pract. 2017;213(9):1227–1230.
   PubMedGoogle Scholar
• Hu K, et al. Mammalian-enabled (MENA) protein enhances oncogenic potential and cancer stem cell-like phenotype in hepatocellular carcinoma cells. FEBS Open Bio. 2017;7(8):1144–1153.
   PubMedGoogle Scholar
• Toyoda A, et al. Aberrant expression of human ortholog of mammalian enabled (hMena) in human colorectal carcinomas: implications for its role in tumor progression. Int J Oncol. 2009;34(1):53–60.
   PubMedGoogle Scholar