Mutations in the TTN Gene are a Prognostic Factor for Patients with Lung Squamous Cell Carcinomas

References

• Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA, Jemal A. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2018;68(6):394–424. doi:10.3322/caac.21492
   PubMed Web of Science ®Google Scholar
• Siegel RL, Miller KD, Fuchs HE, Jemal A. Cancer Statistics, 2021. CA Cancer J Clin. 2021;71(1):7–33. doi:10.3322/caac.21654
   PubMed Web of Science ®Google Scholar
• Molina JR, Yang P, Cassivi SD, Schild SE, Adjei AA. Non-small cell lung cancer: epidemiology, risk factors, treatment, and survivorship. Mayo Clin Proc. 2008;83(5):584–594. doi:10.1016/S0025-6196(11)60735-0
   PubMed Web of Science ®Google Scholar
• Islami F, Torre LA, Jemal A. Global trends of lung cancer mortality and smoking prevalence. Transl Lung Cancer Res. 2015;4(4):327–338. doi:10.3978/j.issn.2218-6751.2015.08.04
   PubMed Web of Science ®Google Scholar
• Rizvi NA, Hellmann MD, Brahmer JR, et al. Nivolumab in combination with platinum-based doublet chemotherapy for first-line treatment of advanced non-small-cell lung cancer. J Clin Oncol. 2016;34(25):2969–2979. doi:10.1200/JCO.2016.66.9861
   PubMed Web of Science ®Google Scholar
• Reck M, Rabe KF. Precision diagnosis and treatment for advanced non-small-cell lung cancer. N Engl J Med. 2017;377(9):849–861. doi:10.1056/NEJMra1703413
   PubMed Web of Science ®Google Scholar
• Hu Z, Bi G, Sui Q, et al. Analyses of multi-omics differences between patients with high and low PD1/PDL1 expression in lung squamous cell carcinoma. Int Immunopharmacol. 2020;88:106910. doi:10.1016/j.intimp.2020.106910
   PubMed Web of Science ®Google Scholar
• Tanegashima T, Togashi Y, Azuma K, et al. Immune Suppression by PD-L2 against Spontaneous and Treatment-Related Antitumor Immunity. Clin Cancer Res. 2019;25(15):4808–4819. doi:10.1158/1078-0432.CCR-18-3991
   PubMed Web of Science ®Google Scholar
• Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet. 2002;71(3):492–500. doi:10.1086/342380
   PubMed Web of Science ®Google Scholar
• Bang ML, Centner T, Fornoff F, et al. The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system. Circ Res. 2001;89(11):1065–1072. doi:10.1161/hh2301.100981
   PubMed Web of Science ®Google Scholar
• Kim Y-A, Madan S, Przytycka TM. WeSME: uncovering mutual exclusivity of cancer drivers and beyond. Bioinformatics. 2017;33(6):814–821. doi:10.1093/bioinformatics/btw242
   PubMed Web of Science ®Google Scholar
• Hofree M, Shen JP, Carter H, Gross A, Ideker T. Network-based stratification of tumor mutations. Nat Methods. 2013;10(11):1108–1115. doi:10.1038/nmeth.2651
   PubMed Web of Science ®Google Scholar
• Schafer S, de Marvao A, Adami E, et al. Titin-truncating variants affect heart function in disease cohorts and the general population. Nat Genet. 2017;49(1):46–53. doi:10.1038/ng.3719
   PubMed Web of Science ®Google Scholar
• Watanabe H, Atsuta N, Hirakawa A, et al. A rapid functional decline type of amyotrophic lateral sclerosis is linked to low expression of TTN. J Neurol Neurosurg Psychiatry. 2016;87(8):851–858. doi:10.1136/jnnp-2015-311541
   PubMed Web of Science ®Google Scholar
• Herman DS, Lam L, Taylor MRG, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366(7):619–628. doi:10.1056/NEJMoa1110186
   PubMed Web of Science ®Google Scholar
• Jia Q, Wang J, He N, He J, Zhu B. Titin mutation associated with responsiveness to checkpoint blockades in solid tumors. JCI Insight. 2019;4(10):10. doi:10.1172/jci.insight.127901
   Web of Science ®Google Scholar
• Yarchoan M, Hopkins A, Jaffee EM. Tumor Mutational Burden and Response Rate to PD-1 Inhibition. N Engl J Med. 2017;377(25):2500–2501. doi:10.1056/NEJMc1713444
   PubMed Web of Science ®Google Scholar
• Addeo A, Friedlaender A, Banna GL, Weiss GJ. TMB or not TMB as a biomarker: that is the question. Crit Rev Oncol Hematol. 2021;163:103374. doi:10.1016/j.critrevonc.2021.103374
   PubMed Web of Science ®Google Scholar
• Jardim DL, Goodman A, de Melo Gagliato D, Kurzrock R. The Challenges of Tumor Mutational Burden as an Immunotherapy Biomarker. Cancer Cell. 2021;39(2):154–173. doi:10.1016/j.ccell.2020.10.001
   PubMed Web of Science ®Google Scholar
• Büttner R, Longshore JW, López-Ríos F, et al. Implementing TMB measurement in clinical practice: considerations on assay requirements. ESMO Open. 2019;4(1):e000442. doi:10.1136/esmoopen-2018-000442
   PubMed Web of Science ®Google Scholar
• Liu L, Bai X, Wang J, et al. Combination of TMB and CNA stratifies prognostic and predictive responses to immunotherapy across metastatic cancer. Clin Cancer Res. 2019;25(24):7413–7423. doi:10.1158/1078-0432.CCR-19-0558
   PubMed Web of Science ®Google Scholar
• Samstein RM, Lee C-H, Shoushtari AN, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019;51(2):202–206. doi:10.1038/s41588-018-0312-8
   PubMed Web of Science ®Google Scholar
• Chan TA, Yarchoan M, Jaffee E, et al. Development of tumor mutation burden as an immunotherapy biomarker: utility for the oncology clinic. Ann Oncol. 2019;30(1):44–56. doi:10.1093/annonc/mdy495
   PubMed Web of Science ®Google Scholar
• Hellmann MD, Nathanson T, Rizvi H, et al. Genomic features of response to combination immunotherapy in patients with advanced non-small-cell lung cancer. Cancer Cell. 2018;33:5. doi:10.1016/j.ccell.2018.03.018
   PubMed Web of Science ®Google Scholar
• Mayakonda A, Lin D-C, Assenov Y, Plass C, Koeffler HP. Maftools: efficient and comprehensive analysis of somatic variants in cancer. Genome Res. 2018;28(11):1747–1756. doi:10.1101/gr.239244.118
   PubMed Web of Science ®Google Scholar
• Chalmers ZR, Connelly CF, Fabrizio D, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9(1):34. doi:10.1186/s13073-017-0424-2
   PubMed Web of Science ®Google Scholar
• Subramanian A, Tamayo P, Mootha VK, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci U S A. 2005;102(43):15545–15550. doi:10.1073/pnas.0506580102
   PubMed Web of Science ®Google Scholar
• Ciferri A, Crumbliss AL. The assembling and contraction mechanisms of striated muscles. Front Chem. 2018;6:570. doi:10.3389/fchem.2018.00570
   PubMed Web of Science ®Google Scholar
• Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013;81(14):1205–1214. doi:10.1212/WNL.0b013e3182a6ca62
   PubMed Web of Science ®Google Scholar
• Li X, Pasche B, Zhang W, Chen K. Association of MUC16 mutation with tumor mutation load and outcomes in patients with gastric cancer. JAMA Oncol. 2018;4(12):1691–1698. doi:10.1001/jamaoncol.2018.2805
   PubMed Web of Science ®Google Scholar
• Wang Z, Wang C, Lin S, Yu X. Effect of TTN mutations on immune microenvironment and efficacy of immunotherapy in lung adenocarcinoma patients. Front Oncol. 2021;11:725292. doi:10.3389/fonc.2021.725292
   PubMed Web of Science ®Google Scholar
• McGowan M, Hoven AS, Lund-Iversen M, et al. PIK3CA mutations as prognostic factor in squamous cell lung carcinoma. Lung Cancer. 2017;103:52–57. doi:10.1016/j.lungcan.2016.11.018
   PubMed Web of Science ®Google Scholar
• Domingo E, Freeman-Mills L, Rayner E, et al. Somatic POLE proofreading domain mutation, immune response, and prognosis in colorectal cancer: a retrospective, pooled biomarker study. Lancet Gastroenterol Hepatol. 2016;1(3):207–216. doi:10.1016/S2468-1253(16)30014-0
   PubMed Web of Science ®Google Scholar
• Minde DP, Anvarian Z, Rüdiger SG, Maurice MM. Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer? Mol Cancer. 2011;10(1):101. doi:10.1186/1476-4598-10-101
   PubMed Web of Science ®Google Scholar
• Snyder A, Makarov V, Merghoub T, et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med. 2014;371(23):2189–2199. doi:10.1056/NEJMoa1406498
   PubMed Web of Science ®Google Scholar
• Rooney MS, Shukla SA, Wu CJ, Getz G, Hacohen N. Molecular and genetic properties of tumors associated with local immune cytolytic activity. Cell. 2015;160(1–2):48–61. doi:10.1016/j.cell.2014.12.033
   PubMed Web of Science ®Google Scholar
• Chen Y, Liu Q, Chen Z, et al. PD-L1 expression and tumor mutational burden status for prediction of response to chemotherapy and targeted therapy in non-small cell lung cancer. J Exp Clin Cancer Res. 2019;38(1):193. doi:10.1186/s13046-019-1192-1
   PubMed Web of Science ®Google Scholar
• Chen H, Chong W, Wu Q, Yao Y, Mao M, Wang X. Association of mutation with tumor mutation burden and outcomes in melanoma and non-small cell lung cancer patients treated with immune check-point blockades. Front Immunol. 2019;10:1113. doi:10.3389/fimmu.2019.01113
   PubMed Web of Science ®Google Scholar
• Schengrund CL, Repman MA, Shochat SJ. Ganglioside composition of human neuroblastomas. Correlation with prognosis. A Pediatric Oncology Group Study. Cancer. 1985;56(11):2640–2646. doi:10.1002/1097-0142(19851201)56:11<2640::AID-CNCR2820561118>3.0.CO;2-W
   PubMed Web of Science ®Google Scholar
• Hettmer S, Malott C, Woods W, Ladisch S, Kaucic K. Biological stratification of human neuroblastoma by complex “B” pathway ganglioside expression. Cancer Res. 2003;63(21):7270–7276.
   PubMed Web of Science ®Google Scholar
• Olsson M, Beck S, Kogner P, Martinsson T, Carén H. Genome-wide methylation profiling identifies novel methylated genes in neuroblastoma tumors. Epigenetics. 2016;11(1):74–84. doi:10.1080/15592294.2016.1138195
   PubMed Web of Science ®Google Scholar
• Chase C, Kaushik RS. Mucosal immune system of cattle: all immune responses begin here. Vet Clin North Am Food Anim Pract. 2019;35(3):431–451. doi:10.1016/j.cvfa.2019.08.006
   PubMed Web of Science ®Google Scholar
• Kolb EA, Buterbaugh RE, Rinehart CL, et al. Protection against bovine respiratory syncytial virus in calves vaccinated with adjuvanted modified live vaccine administered in the face of maternal antibody. Vaccine. 2020;38(2):298–308. doi:10.1016/j.vaccine.2019.10.015
   PubMed Web of Science ®Google Scholar
• Gommerman JL, Rojas OL, Fritz JH. Re-thinking the functions of IgA(+) plasma cells. Gut Microbes. 2014;5(5):652–662. doi:10.4161/19490976.2014.969977
   PubMed Web of Science ®Google Scholar
• Getter T, Margalit R, Kahremany S, et al. Novel inhibitors of leukocyte transendothelial migration. Bioorg Chem. 2019;92:103250. doi:10.1016/j.bioorg.2019.103250
   PubMed Web of Science ®Google Scholar
• Zhou J, Ng B, Ko NSJ, et al. Titin truncations lead to impaired cardiomyocyte autophagy and mitochondrial function in vivo. Hum Mol Genet. 2019;28(12):1971–1981. doi:10.1093/hmg/ddz033
   PubMed Web of Science ®Google Scholar
• Fang X, Netzer M, Baumgartner C, Bai C, Wang X. Genetic network and gene set enrichment analysis to identify biomarkers related to cigarette smoking and lung cancer. Cancer Treat Rev. 2013;39(1):77–88. doi:10.1016/j.ctrv.2012.06.001
   PubMed Web of Science ®Google Scholar
• Tang-Huau T-L, Gueguen P, Goudot C, et al. Human in vivo-generated monocyte-derived dendritic cells and macrophages cross-present antigens through a vacuolar pathway. Nat Commun. 2018;9(1):2570. doi:10.1038/s41467-018-04985-0
   PubMed Web of Science ®Google Scholar
• Ritchie D, Mileshkin L, Wall D, et al. In vivo tracking of macrophage activated killer cells to sites of metastatic ovarian carcinoma. Cancer Immunol Immunother. 2007;56(2):155–163. doi:10.1007/s00262-006-0181-3
   PubMed Web of Science ®Google Scholar
• Klichinsky M, Ruella M, Shestova O, et al. Human chimeric antigen receptor macrophages for cancer immunotherapy. Nat Biotechnol. 2020;38(8):947–953. doi:10.1038/s41587-020-0462-y
   PubMed Web of Science ®Google Scholar
• Noy R, Pollard JW. Tumor-associated macrophages: from mechanisms to therapy. Immunity. 2014;41(1):49–61. doi:10.1016/j.immuni.2014.06.010
   PubMed Web of Science ®Google Scholar
• Weiskopf K, Weissman IL. Macrophages are critical effectors of antibody therapies for cancer. MAbs. 2015;7(2):303–310. doi:10.1080/19420862.2015.1011450
   PubMed Web of Science ®Google Scholar