Acknowledgement
This study was supported by Bristol Myers Squibb. The biospecimens of this study were provided by Samsung Medical Center BioBank (2019-0029).
References
- Shen T, Pajaro-Van de Stadt SH, Yeat NC and Lin JC (2015) Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes. Front Genet 6, 215 https://doi.org/10.3389/fgene.2015.00215
- Luthra R, Chen H, Roy-Chowdhuri S and Singh RR (2015) Next-generation sequencing in clinical molecular diagnostics of cancer: advantages and challenges. Cancers (Basel) 7, 2023-2036 https://doi.org/10.3390/cancers7040874
- Ettinger DS, Wood DE, Aisner DL et al (2021) NCCN Guidelines insights: non-small cell lung cancer, version 2.2021. J Natl Compr Canc Netw 19, 254-266 https://doi.org/10.6004/jnccn.2021.0013
- Drilon A, Wang L, Arcila ME et al (2015) Broad, hybrid capture-based next-generation sequencing identifies actionable genomic alterations in lung adenocarcinomas otherwise negative for such alterations by other genomic testing approaches. Clin Cancer Res 21, 3631-3639 https://doi.org/10.1158/1078-0432.CCR-14-2683
- Surrey LF, MacFarland SP, Chang F et al (2019) Clinical utility of custom-designed NGS panel testing in pediatric tumors. Genome Med 11, 32 https://doi.org/10.1186/s13073-019-0644-8
- Reck M, Rodriguez-Abreu D, Robinson AG et al (2016) Pembrolizumab versus chemotherapy for PD-L1-positive non-small-cell lung cancer. N Engl J Med 375, 1823-1833 https://doi.org/10.1056/NEJMoa1606774
- Larkin J, Chiarion-Sileni V, Gonzalez R et al (2019) Five-year survival with combined nivolumab and ipilimumab in advanced melanoma. N Engl J Med 381, 1535-1546 https://doi.org/10.1056/NEJMoa1910836
- Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500, 415-421 https://doi.org/10.1038/nature12477
- Yarchoan M, Hopkins A and Jaffee EM (2017) Tumor mutational burden and response rate to PD-1 inhibition. N Engl J Med 377, 2500-2501 https://doi.org/10.1056/NEJMc1713444
- Snyder A, Makarov V, Merghoub T et al (2014) Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med 371, 2189-2199 https://doi.org/10.1056/NEJMoa1406498
- Rizvi NA, Hellmann MD, Snyder A et al (2015) Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer. Science 348, 124-128 https://doi.org/10.1126/science.aaa1348
- Rizvi H, Sanchez-Vega F, La K et al (2018) Molecular determinants of response to anti-programmed cell death (PD)-1 and anti-programmed death-ligand 1 (PD-L1) blockade in patients with non-small-cell lung cancer profiled with targeted next-generation sequencing. J Clin Oncol 36, 633-641
- Andre T, Shiu KK, Kim TW et al (2020) Pembrolizumab in microsatellite-instability-high advanced colorectal cancer. N Engl J Med 383, 2207-2218 https://doi.org/10.1056/NEJMoa2017699
- Marabelle A, Fakih M, Lopez J et al (2020) 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 21, 1353-1365 https://doi.org/10.1016/S1470-2045(20)30445-9
- Chalmers ZR, Connelly CF, Fabrizio D et al (2017) Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med 9, 34 https://doi.org/10.1186/s13073-017-0424-2
- Le DT, Uram JN, Wang H et al (2015) PD-1 Blockade in tumors with mismatch-repair deficiency. N Engl J Med 372, 2509-2520 https://doi.org/10.1056/NEJMoa1500596
- Budczies J, Allgauer M, Litchfield K et al (2019) Optimizing panel-based tumor mutational burden (TMB) measurement. Ann Oncol 30, 1496-1506 https://doi.org/10.1093/annonc/mdz205
- Golkaram M, Zhao C, Kruglyak K, Zhang S and Bilke S (2020) The interplay between cancer type, panel size and tumor mutational burden threshold in patient selection for cancer immunotherapy. PLoS Comput Biol 16, e1008332 https://doi.org/10.1371/journal.pcbi.1008332
- Hong TH, Cha H, Shim JH et al (2020) Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity. J Immunother Cancer 8, e001199 https://doi.org/10.1136/jitc-2020-001199
- Shim JH, Kim HS, Cha H et al (2020) HLA-corrected tumor mutation burden and homologous recombination deficiency for the prediction of response to PD-(L)1 blockade in advanced non-small-cell lung cancer patients. Ann Oncol 31, 902-911 https://doi.org/10.1016/j.annonc.2020.04.004
- Heydt C, Rehker J, Pappesch R et al (2020) Analysis of tumor mutational burden: correlation of five large gene panels with whole exome sequencing. Sci Rep 10, 11387 https://doi.org/10.1038/s41598-020-68394-4
- Shin HT, Choi YL, Yun JW et al (2017) Prevalence and detection of low-allele-fraction variants in clinical cancer samples. Nat Commun 8, 1377 https://doi.org/10.1038/s41467-017-01470-y
- Kim ST, Kim KM, Kim NKD et al (2017) Clinical application of targeted deep sequencing in solid-cancer patients and utility for biomarker-selected clinical trials. Oncologist 22, 1169-1177 https://doi.org/10.1634/theoncologist.2017-0020
- Lee J, Kim ST, Kim K et al (2019) Tumor genomic profiling guides patients with metastatic gastric cancer to targeted treatment: the VIKTORY umbrella trial. Cancer Discov 9, 1388-1405 https://doi.org/10.1158/2159-8290.cd-19-0442
- Kim Y, Lee B, Shim JH et al (2019) Concurrent genetic alterations predict the progression to target therapy in EGFR-mutated advanced NSCLC. J Thorac Oncol 14, 193-202 https://doi.org/10.1016/j.jtho.2018.10.150
- Lee J, Shim JH, Park WY et al (2019) Rare mechanism of acquired resistance to osimertinib in Korean patients with EGFR-mutated non-small cell lung cancer. Cancer Res Treat 51, 408-412 https://doi.org/10.4143/crt.2018.138
- Yun JW, Bae YK, Cho SY et al (2019) Elucidation of novel therapeutic targets for acute myeloid leukemias with RUNX1-RUNX1T1 fusion. Int J Mol Sci 20, 1717 https://doi.org/10.3390/ijms20071717
- Park YH, Shin HT, Jung HH et al (2015) Role of HER2 mutations in refractory metastatic breast cancers: targeted sequencing results in patients with refractory breast cancer. Oncotarget 6, 32027-32038 https://doi.org/10.18632/oncotarget.5184
- Kim KH, Kim J, Park H et al (2020) Parallel comparison and combining effect of radiomic and emerging genomic data for prognostic stratification of non-small cell lung carcinoma patients. Thorac Cancer 11, 2542-2551 https://doi.org/10.1111/1759-7714.13568
- Ku BM, Bae YH, Lee KY et al (2020) Entrectinib resistance mechanisms in ROS1-rearranged non-small cell lung cancer. Invest New Drugs 38, 360-368 https://doi.org/10.1007/s10637-019-00795-3
- Park S, Ku BM, Jung HA et al (2020) EGFR C797S as a resistance mechanism of lazertinib in non-small cell lung cancer with EGFR T790M mutation. Cancer Res Treat 52, 1288-1290
- Lee HS, Kim E, Lee J et al (2021) Profiling of conditionally reprogrammed cell lines for in vitro chemotherapy response prediction of pancreatic cancer. EBioMedicine 65, 103218 https://doi.org/10.1016/j.ebiom.2021.103218
- Lee Y, Lee S, Sung JS et al (2021) Clinical application of targeted deep sequencing in metastatic colorectal cancer patients: actionable genomic alteration in K-MASTER project. Cancer Res Treat 53, 123-130 https://doi.org/10.4143/crt.2020.559
- Wu HX, Wang ZX, Zhao Q et al (2019) Tumor mutational and indel burden: a systematic pan-cancer evaluation as prognostic biomarkers. Ann Transl Med 7, 640 https://doi.org/10.21037/atm.2019.10.116
- Fancello L, Gandini S, Pelicci PG and Mazzarella L (2019) Tumor mutational burden quantification from targeted gene panels: major advancements and challenges. J Immunother Cancer 7, 183 https://doi.org/10.1186/s40425-019-0647-4