109
Views
0
CrossRef citations to date
0
Altmetric
Original Research

Relevance of PD-L1 Non-Coding Polymorphisms on the Prognosis of a Genetically Admixed NSCLC Cohort

ORCID Icon, ORCID Icon, ORCID Icon, , ORCID Icon, ORCID Icon, ORCID Icon, ORCID Icon, , ORCID Icon, ORCID Icon & ORCID Icon show all
Pages 239-252 | Published online: 15 Feb 2021

References

  • Shankar A, Saini D, Dubey A, et al. Feasibility of lung cancer screening in developing countries: challenges, opportunities and way forward. Transl Lung Cancer Res. 2019;8(Suppl S1):S106–S121. doi:10.21037/tlcr.2019.03.03
  • Berghmans T, Durieux V, Hendriks LEL, Dingemans A-M. Immunotherapy: from Advanced NSCLC to Early Stages, an Evolving Concept. Front Med. 2020;7:90. doi:10.3389/fmed.2020.00090
  • Bylicki O, Paleiron N, Rousseau-Bussac G, Chouaïd C. New PDL1 inhibitors for non-small cell lung cancer: focus on pembrolizumab. Onco Targets Ther. 2018;11:4051–4064. doi:10.2147/OTT.S154606
  • Yeo M-K, Choi S-Y, Seong I-O, Suh K-S, Kim JM, Kim K-H. Association of PD-L1 expression and PD-L1 gene polymorphism with poor prognosis in lung adenocarcinoma and squamous cell carcinoma. Hum Pathol. 2017;68:103–111. doi:10.1016/j.humpath.2017.08.016
  • Francisco LM, Salinas VH, Brown KE, et al. PD-L1 regulates the development, maintenance, and function of induced regulatory T cells. J Exp Med. 2009;206(13):3015–3029. doi:10.1084/jem.20090847
  • Lantuejoul S, Damotte D, Hofman V, Adam J. Programmed death ligand 1 immunohistochemistry in non-small cell lung carcinoma. J Thorac Dis. 2019;11(Suppl S1):S89–S101. doi:10.21037/jtd.2018.12.103
  • Aggarwal C, Abreu DR, Felip E, et al. Prevalence of PD-L1 expression in patients with non-small cell lung cancer screened for enrollment in KEYNOTE-001, −010, and −024. Ann Oncol. 2016;27(6):359–378. doi:10.1093/annonc/mdw378.14
  • Yu H, Boyle TA, Zhou C, Rimm DL, Hirsch FR. PD-L1 Expression in Lung Cancer. J Thorac Oncol. 2016;11(7):964–975. doi:10.1016/j.jtho.2016.04.014
  • Reck M, Rodríguez-Abreu D, Robinson AG, et al. Pembrolizumab versus Chemotherapy for PD-L1–Positive Non–Small-Cell Lung Cancer. N Engl J Med. 2016;375(19):1823–1833. doi:10.1056/NEJMoa1606774
  • Marwitz S, Scheufele S, Perner S, Reck M, Ammerpohl O, Goldmann T. Epigenetic modifications of the immune-checkpoint genes CTLA4 and PDCD1 in non-small cell lung cancer results in increased expression. Clin Epigenetics. 2017;9(1):51. doi:10.1186/s13148-017-0354-2
  • Chen L, Gibbons DL, Goswami S, et al. Metastasis is regulated via microRNA-200/ZEB1 axis control of tumour cell PD-L1 expression and intratumoral immunosuppression. Nat Commun. 2014;5(1):5241. doi:10.1038/ncomms6241
  • Ma Y, Adjemian S, Mattarollo SR, et al. Anticancer chemotherapy-induced intratumoral recruitment and differentiation of antigen-presenting cells. Immunity. 2013;38(4):729–741. doi:10.1016/j.immuni.2013.03.003
  • Mazzaschi G, Madeddu D, Falco A, et al. Low PD-1 Expression in Cytotoxic CD8 + Tumor-Infiltrating Lymphocytes Confers an Immune-Privileged Tissue Microenvironment in NSCLC with a Prognostic and Predictive Value. Clin Cancer Res. 2018;24(2):407–419. doi:10.1158/1078-0432.CCR-17-2156
  • de Vooght KMK, van Wijk R, van Solinge WW. Management of Gene Promoter Mutations in Molecular Diagnostics. Clin Chem. 2009;55(4):698–708. doi:10.1373/clinchem.2008.120931
  • Cuykendall TN, Rubin MA, Khurana E. Non-coding genetic variation in cancer. Curr Opin Syst Biol. 2017;1:9–15. doi:10.1016/j.coisb.2016.12.017
  • Amlie-Wolf A, Tang M, Way J, et al. Inferring the Molecular Mechanisms of Noncoding Alzheimer’s Disease-Associated Genetic Variants. J Alzheimers Dis. 2019;72(1):301–318. doi:10.3233/JAD-190568
  • Hashemi M, Karami S, Sarabandi S, et al. Association between PD-1 and PD-L1 Polymorphisms and the Risk of Cancer: A Meta-Analysis of Case-Control Studies. Cancers. 2019;11(8):1150. doi:10.3390/cancers11081150
  • Lee SY, Jung DK, Choi JE, et al. Functional polymorphisms in PD-L1 gene are associated with the prognosis of patients with early stage non-small cell lung cancer. Gene. 2017;599:28–35. doi:10.1016/j.gene.2016.11.007
  • Fabrizio FP, Trombetta D, Rossi A, Sparaneo AA, Castellana S, Muscarella LA. Gene code CD274/PD-L1: from molecular basis toward cancer immunotherapy. Ther Adv Med Oncol. 2018;10:1758835918815598. doi:10.1177/1758835918815598
  • Araujo LH, Baldotto CA, Castro JGD, et al. Lung cancer in Brazil. J Bras Pneumol. 2018;44(1):55–64. doi:10.1590/s1806-37562017000000135
  • de Melo AC, de Sá VK, Sternberg C, et al. Mutational Profile and New IASLC/ATS/ERS Classification Provide Additional Prognostic Information about Lung Adenocarcinoma: A Study of 125 Patients from Brazil. Oncology. 2015;89(3):175–186. doi:10.1159/000376552
  • de Sá VK, Coelho JC, Capelozzi VL, de Azevedo SJ. Lung cancer in Brazil: epidemiology and treatment challenges.. Lung Cancer. 2016;7:141–148. doi:10.2147/LCTT.S93604
  • Goldstraw P, Chansky K, Crowley J, et al. The IASLC Lung Cancer Staging Project: proposals for Revision of the TNM Stage Groupings in the Forthcoming (Eighth) Edition of the TNM Classification for Lung Cancer. J Thorac Oncol. 2016;11(1):39–51. doi:10.1016/j.jtho.2015.09.009
  • Parra ER, Uraoka N, Jiang M, et al. Validation of multiplex immunofluorescence panels using multispectral microscopy for immune-profiling of formalin-fixed and paraffin-embedded human tumor tissues. Sci Rep. 2017;7(1):13380. doi:10.1038/s41598-017-13942-8
  • Parra ER, Jiang M, Machado-Rugolo J, et al. Variants in Epithelial-Mesenchymal Transition and Immune Checkpoint Genes Are Associated With Immune Cell Profiles and Predict Survival in Non–Small Cell Lung Cancer. Arch Pathol Lab Med. 2020;144(10):1234–1244. doi:10.5858/arpa.2019-0419-OA
  • Gorris MAJ, Halilovic A, Rabold K, et al. Eight-Color Multiplex Immunohistochemistry for Simultaneous Detection of Multiple Immune Checkpoint Molecules within the Tumor Microenvironment. J Immunol. 2018;200(1):347–354. doi:10.4049/jimmunol.1701262
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–1760. doi:10.1093/bioinformatics/btp324
  • McLaren W, Gil L, Hunt SE, et al. The Ensembl Variant Effect Predictor.. Genome Biol. 2016;17(1):122. doi:10.1186/s13059-016-0974-4
  • Naslavsky MS, Yamamoto GL, de Almeida TF, et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Hum Mutat. 2017;38(7):751–763. doi:10.1002/humu.23220
  • Kopanos C, Tsiolkas V, Kouris A, et al. VarSome: the human genomic variant search engine. Bioinformatics. 2019;35(11):1978–1980. doi:10.1093/bioinformatics/bty897
  • Quang D, Chen Y, Xie X. DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics. 2015;31(5):761–763. doi:10.1093/bioinformatics/btu703
  • Davydov EV, Goode DL, Sirota M, Cooper GM, Sidow A, Batzoglou S. Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol. 2010;6(12):e1001025. doi:10.1371/journal.pcbi.1001025
  • Cooper GM, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 2005;15(7):901–913. doi:10.1101/gr.3577405
  • Xu Z, Taylor JA. SNPinfo: integrating GWAS and candidate gene information into functional SNP selection for genetic association studies. Nucleic Acids Res. 2009;37(suppl_2):W600–W605. doi:10.1093/nar/gkp290
  • Boyle AP, Hong EL, Hariharan M, et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 2012;22(9):1790–1797. doi:10.1101/gr.137323.112
  • Nishino M, Ramaiya NH, Hatabu H, Hodi FS. Monitoring immune-checkpoint blockade: response evaluation and biomarker development. Nat Rev Clin Oncol. 2017;14(11):655–668. doi:10.1038/nrclinonc.2017.88
  • Borghaei H, Paz-Ares L, Horn L, et al. Nivolumab versus Docetaxel in Advanced Nonsquamous Non–Small-Cell Lung Cancer. N Engl J Med. 2015;373(17):1627–1639. doi:10.1056/NEJMoa1507643
  • Brahmer J, Reckamp KL, Baas P, et al. Nivolumab versus Docetaxel in Advanced Squamous-Cell Non–Small-Cell Lung Cancer. N Engl J Med. 2015;373(2):123–135. doi:10.1056/NEJMoa1504627
  • Yi C, He Y, Xia H, Zhang H, Zhang P. Review and perspective on adjuvant and neoadjuvant immunotherapies in NSCLC. Onco Targets Ther. 2019;12:7329–7336. doi:10.2147/OTT.S218321
  • Horn L, Spigel DR, Vokes EE, et al. Nivolumab Versus Docetaxel in Previously Treated Patients With Advanced Non–Small-Cell Lung Cancer: two-Year Outcomes From Two Randomized, Open-Label, Phase III Trials (CheckMate 017 and CheckMate 057). J Clin Oncol. 2017;35(35):3924–3933. doi:10.1200/JCO.2017.74.3062
  • 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. doi:10.1056/NEJMoa1709937
  • Fehrenbacher L, von Pawel J, Park K, et al. Updated Efficacy Analysis Including Secondary Population Results for OAK: A Randomized Phase III Study of Atezolizumab versus Docetaxel in Patients with Previously Treated Advanced Non–Small Cell Lung Cancer. J Thorac Oncol. 2018;13(8):1156–1170. doi:10.1016/j.jtho.2018.04.039
  • Gandhi L, Rodríguez-Abreu D, Gadgeel S, et al. Pembrolizumab plus Chemotherapy in Metastatic Non–Small-Cell Lung Cancer. N Engl J Med. 2018;378(22):2078–2092. doi:10.1056/NEJMoa1801005
  • Shimoji M, Shimizu S, Sato K, et al. Clinical and pathologic features of lung cancer expressing programmed cell death ligand 1 (PD-L1). Lung Cancer. 2016;98:69–75. doi:10.1016/j.lungcan.2016.04.021
  • Takada K, Toyokawa G, Okamoto T, et al. A Comprehensive Analysis of Programmed Cell Death Ligand-1 Expression With the Clone SP142 Antibody in Non–Small-Cell Lung Cancer Patients. Clin Lung Cancer. 2017;18(5):572–582. doi:10.1016/j.cllc.2017.02.004
  • Cha YJ, Kim HR, Lee CY, Cho BC, Shim HS. Clinicopathological and prognostic significance of programmed cell death ligand-1 expression in lung adenocarcinoma and its relationship with p53 status. Lung Cancer. 2016;97:73–80. doi:10.1016/j.lungcan.2016.05.001
  • Du W, Zhu J, Chen Y, et al. Variant SNPs at the microRNA complementary site in the B7-H1 3′-untranslated region increase the risk of non-small cell lung cancer. Mol Med Rep. 2017;16(3):2682–2690. doi:10.3892/mmr.2017.6902
  • Nomizo T, Ozasa H, Tsuji T, et al. Clinical Impact of Single Nucleotide Polymorphism in PD-L1 on Response to Nivolumab for Advanced Non-Small-Cell Lung Cancer Patients. Sci Rep. 2017;7(1):45124. doi:10.1038/srep45124
  • Zhao M, Zhang J, Chen S, Wang Y, Tian Q. Influence of Programmed Death Ligand-1-Gene Polymorphism rs822336 on the Prognosis and Safety of Postoperative Patients with NSCLC Who Received Platinum-Based Adjuvant Chemotherapy. Cancer Manag Res. 2020;12:6755–6766. doi:10.2147/CMAR.S255072
  • Lee SY, Jung DK, Choi JE, et al. PD-L1 polymorphism can predict clinical outcomes of non-small cell lung cancer patients treated with first-line paclitaxel-cisplatin chemotherapy. Sci Rep. 2016;6(1):25952. doi:10.1038/srep25952
  • Tao L-H, Zhou X-R, Li F-C, et al. A polymorphism in the promoter region of PD-L1 serves as a binding-site for SP1 and is associated with PD-L1 overexpression and increased occurrence of gastric cancer. Cancer Immunol Immunother. 2017;66(3):309–318. doi:10.1007/s00262-016-1936-0
  • Krawczyk P, Grenda A, Wojas-Krawczyk K, et al. PD-L1 gene copy number and promoter polymorphisms regulate PD-L1 expression in tumor cells of non-small cell lung cancer patients. Cancer Genetics. 2019;237:10–18. doi:10.1016/j.cancergen.2019.06.001
  • Yu Z, Li Z, Jolicoeur N, et al. Aberrant allele frequencies of the SNPs located in microRNA target sites are potentially associated with human cancers. Nucleic Acids Res. 2007;35(13):4535–4541. doi:10.1093/nar/gkm480