235
Views
0
CrossRef citations to date
0
Altmetric
Review

Recent advance of next-generation sequencing in patients with lung cancer

, &
Pages 959-970 | Received 07 Apr 2023, Accepted 15 Sep 2023, Published online: 26 Sep 2023

References

  • Zhou C, Wu YL, Chen G, et al. Final overall survival results from a randomised, phase III study of erlotinib versus chemotherapy as first-line treatment of EGFR mutation-positive advanced non-small-cell lung cancer (OPTIMAL, CTONG-0802). Ann Oncol. 2015;26(9):1877–1883. doi: 10.1093/annonc/mdv276
  • Mok TS, Wu Y-L, Ahn M-J, et al. Osimertinib or platinum-pemetrexed in EGFR T790M-Positive lung cancer. N Engl J Med. 2017 Feb 16;376(7):629–640. doi: 10.1056/NEJMoa1612674
  • He J, Su C, Liang W, et al. Icotinib versus chemotherapy as adjuvant treatment for stage II-IIIA EGFR-mutant non-small-cell lung cancer (EVIDENCE): a randomised, open-label, phase 3 trial. Lancet Respir Med. 2021 Sep;9(9):1021–1029. doi: 10.1016/S2213-2600(21)00134-X
  • Tsuboi M, Herbst RS, John T, et al. Overall survival with osimertinib in resected EGFR-mutated NSCLC. N Engl J Med. 2023 Jul 13;389(2):137–147. doi: 10.1056/NEJMoa2304594
  • Reck M, Rodriguez-Abreu D, Robinson AG, et al. Five-year outcomes with pembrolizumab versus chemotherapy for metastatic non-small-cell lung cancer with PD-L1 tumor proportion score ≥ 50%. J Clin Oncol. 2021;39(21):2339±. doi: 10.1200/JCO.21.00174
  • de Castro G, Kudaba I, Wu YL, et al. 363 KEYNOTE-042 5-year survival update: pembrolizumab versus chemotherapy in patients with previously untreated, PD-L1–positive, locally advanced or metastatic non–small-cell lung cancer. J Immunother Cancer. 2021;9(Suppl 2):A390–A390. doi: 10.1136/jitc-2021-SITC2021.363
  • Felip E, Altorki N, Zhou C, et al. Adjuvant atezolizumab after adjuvant chemotherapy in resected stage IB-IIIA non-small-cell lung cancer (IMpower010): a randomised, multicentre, open-label, phase 3 trial. Lancet. 2021;398(10308):1344–1357. doi: 10.1016/S0140-6736(21)02098-5
  • Zhong WZ, Wu YL, Chen KN, et al. CTONG 1103: erlotinib versus gemcitabine plus cisplatin as neo-adjuvant treatment for stage IIIA-N2 EGFR-mutation non- small cell lung cancer (EMERGING): a randomised study. Ann Oncol. 2018;29:738–738. doi: 10.1093/annonc/mdy424.058
  • Hirsch FR, Kerr KM, Bunn PA, et al. Molecular and immune biomarker testing in squamous-cell lung cancer: effect of Current and future therapies and technologies. Clin Lung Cancer. 2018;19(4):331–339. doi: 10.1016/j.cllc.2018.03.014
  • Kris MG, Johnson BE, Berry LD, et al. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. J Am Med Assoc. 2014;311(19):1998–2006. doi: 10.1001/jama.2014.3741
  • Chang ZT, Chan TM, Wu CE. EGFR T751_I759delinsN mutation in Exon19 detected by NGS but not by real-time PCR in a heavily-treated patient with NSCLC. Int J Mol Sci. 2022;23(21):13451. doi: 10.3390/ijms232113451
  • He CL, Wei CC, Wen J, et al. Comprehensive analysis of NGS and ARMS-PCR for detecting EGFR mutations based on 4467 cases of NSCLC patients. J Cancer Res Clin Oncol. 2022;148(2):321–330. doi: 10.1007/s00432-021-03818-w
  • Dall’olio FG, Conci N, Rossi G, et al. Comparison of sequential testing and next generation sequencing in advanced lung adenocarcinoma patients - a single centre experience. Lung Cancer. 2020;149:5–9. doi: 10.1016/j.lungcan.2020.08.008
  • Cohen D, Hondelink LM, Solleveld-Westerink N, et al. Optimizing mutation and fusion detection in NSCLC by sequential DNA and RNA sequencing. J Thorac Oncol. 2020;15(6):1000–1014.*. doi: 10.1016/j.jtho.2020.01.019
  • Benayed R, Offin M, Mullaney K, et al. High yield of RNA sequencing for targetable kinase fusions in lung adenocarcinomas with no mitogenic driver alteration detected by DNA sequencing and low tumor mutation burden. Clin Cancer Res. 2019;25(15):4712–4722. doi: 10.1158/1078-0432.CCR-19-0225
  • Kemper M, Krekeler C, Menck K, et al. Liquid biopsies in lung cancer. Cancers. 2023;15(5):1430.
  • Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic—implementation issues and future challenges. Nat Rev Clin Oncol. 2021;18(5):297–312.*. doi: 10.1038/s41571-020-00457-x
  • Cheng ML, Milan MSD, Tamen RM, et al. Plasma cfDNA genotyping in hospitalized patients with suspected metastatic NSCLC. JCO Precision Oncol. 2021;5(5):726–732. doi: 10.1200/PO.21.00029
  • Li W, Liu JB, Hou LK, et al. Liquid biopsy in lung cancer: significance in diagnostics, prediction, and treatment monitoring. Mol Cancer. 2022;21(1): doi: 10.1186/s12943-022-01505-z
  • Leighl NB, Page RD, Raymond VM, et al. Clinical utility of comprehensive cell-free DNA analysis to identify genomic biomarkers in patients with newly diagnosed metastatic non-small cell lung cancer. Clin Cancer Res. 2019;25(15):4691–4700. doi: 10.1158/1078-0432.CCR-19-0624
  • Cui WY, Milner-Watts C, O’Sullivan H, et al. Up-front cell-free DNA next generation sequencing improves target identification in UK first line advanced non-small cell lung cancer (NSCLC) patients. Eur J Cancer. 2022;171:44–54. doi: 10.1016/j.ejca.2022.05.012
  • Malapelle U, Pisapia P, Rocco D, et al. Next generation sequencing techniques in liquid biopsy: focus on non-small cell lung cancer patients. Transl Lung Cancer Res. 2016;5(5):505–510. doi: 10.21037/tlcr.2016.10.08
  • Muzzey D, Kash S, Johnson JI, et al. Software-assisted manual review of clinical next-generation sequencing data an alternative to routine sanger sequencing confirmation with equivalent results in > 15,000 germline DNA screens. J Mol Diagn. 2019;21(2):296–306. doi: 10.1016/j.jmoldx.2018.10.002
  • Ettinger DS, Wood DE, Aisner DL, et al. Non-small cell lung cancer, version 3.2022. J National Compr Cancer Network. 2022;20(5):497–530. doi: 10.6004/jnccn.2022.0025
  • Mosele F, Remon J, Mateo J, et al. Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: a report from the ESMO precision medicine working group. Ann Oncol. 2020;31(11):1491–1505. doi: 10.1016/j.annonc.2020.07.014
  • Illei PB, Belchis D, Tseng LH, et al. Clinical mutational profiling of 1006 lung cancers by next generation sequencing. Oncotarget. 2017;8(57):96684–96696. doi: 10.18632/oncotarget.18042
  • Zhou XY, Xu XH, Tian ZH, et al. Mutational profiling of lung adenocarcinoma in China detected by next-generation sequencing. J Cancer Res Clin Oncol. 2020;146(9):2277–2287. doi: 10.1007/s00432-020-03284-w
  • Zulato E, Tosello V, Nardo G, et al. Implementation of next generation sequencing-based liquid biopsy for clinical molecular Diagnostics in non-small cell lung cancer (NSCLC) patients. Diagnostics. 2021;11(8):1468. doi: 10.3390/diagnostics11081468
  • Francaviglia I, Magliacane G, Lazzari C, et al. Identification and monitoring of somatic mutations in circulating cell-free tumor DNA in lung cancer patients. Lung Cancer. 2019;134:225–232. doi: 10.1016/j.lungcan.2019.06.010
  • Bayle A, Belcaid L, Aldea M, et al. Clinical utility of circulating tumor DNA sequencing with a large panel: a National center for precision medicine (PRISM) study. Ann Oncol. 2023;34(4):389–396. doi: 10.1016/j.annonc.2023.01.008
  • Gibert J, Clave S, Hardy-Werbin M, et al. Concomitant genomic alterations in KRAS mutant advanced lung adenocarcinoma. Lung Cancer. 2020;140:42–45. doi: 10.1016/j.lungcan.2019.12.003
  • Hong SD, Gao FF, Fu S, et al. Concomitant genetic alterations with response to treatment and epidermal growth factor receptor tyrosine kinase inhibitors in patients with EGFR-Mutant advanced non-small cell lung cancer. JAMA Oncol. 2018;4(5):739–742. doi: 10.1001/jamaoncol.2018.0049
  • Wang ZJ, Cheng Y, An TT, et al. Detection of EGFR mutations in plasma circulating tumour DNA as a selection criterion for first-line gefitinib treatment in patients with advanced lung adenocarcinoma (BENEFIT): a phase 2, single-arm, multicentre clinical trial. Lancet Respir Med. 2018;6(9):681–690. doi: 10.1016/S2213-2600(18)30264-9
  • Herbst RS, Garon EB, Kim DW, et al. Five year survival update from KEYNOTE-010: pembrolizumab versus docetaxel for previously treated, programmed death-ligand 1-positive advanced NSCLC. J Thorac Oncol. 2021;16(10):1718–1732.
  • Mok TSK, Wu YL, Kudaba I, et al. Pembrolizumab versus chemotherapy for previously untreated, PD-L1-expressing, locally advanced or metastatic non-small-cell lung cancer (KEYNOTE-042): a randomised, open-label, controlled, phase 3 trial. Lancet. 2019;393(10183):1819–1830. doi: 10.1016/S0140-6736(18)32409-7
  • Sezer A, Kilickap S, Gumus M, et al. Cemiplimab monotherapy for first-line treatment of advanced non-small-cell lung cancer with PD-L1 of at least 50%: a multicentre, open-label, global, phase 3, randomised, controlled trial. Lancet. 2021;397(10274):592–604. doi: 10.1016/S0140-6736(21)00228-2
  • 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
  • Wang ZJ, Wu L, Li BL, et al. Toripalimab plus chemotherapy for patients with treatment-naive advanced non-small-cell lung cancer: a multicenter randomized phase III trial (CHOICE-01). J Clin Oncol. 2023;41(3):651±. doi: 10.1200/JCO.22.00727
  • Zhou CC, Chen GY, Huang YC, et al. Camrelizumab plus carboplatin and pemetrexed versus chemotherapy alone in chemotherapy-naive patients with advanced non-squamous non-small-cell lung cancer (CameL): a randomised, open-label, multicentre, phase 3 trial. Lancet Respir Med. 2021;9(3):305–314. doi: 10.1016/S2213-2600(20)30365-9
  • Ren SX, Chen JH, Xu X X, et al. Camrelizumab plus carboplatin and paclitaxel as first-line treatment for advanced squamous NSCLC (CameL-Sq): a phase 3 trial. J Thorac Oncol. 2022;17(4):544–557. doi: 10.1016/j.jtho.2021.11.018
  • Fang WF, Ma YX, Yin JNC, et al. Comprehensive genomic profiling identifies novel genetic predictors of response to anti-PD-(L)1 therapies in non-small cell lung cancer. Clin Cancer Res. 2019;25(16):5015–5026. doi: 10.1158/1078-0432.CCR-19-0585
  • Ricciuti B, Arbour KC, Lin JJ, et al. Diminished efficacy of programmed death-(Ligand)1 inhibition in STK11- and KEAP1-mutant lung adenocarcinoma is affected by KRAS mutation status. J Thorac Oncol. 2022;17(3):399–410. doi: 10.1016/j.jtho.2021.10.013
  • Skoulidis F, Goldberg ME, Greenawalt DM, et al. STK11/LKB1 mutations and PD-1 inhibitor resistance in KRAS-mutant lung adenocarcinoma. Cancer Discov. 2018;8(7):822–835. doi: 10.1158/2159-8290.CD-18-0099
  • Mino-Kenudson M, Schalper K, Cooper W, et al. Predictive biomarkers for immunotherapy in lung cancer: perspective from the International association for the study of lung cancer pathology committee. J Thorac Oncol. 2022;17(12):1335–1354. doi: 10.1016/j.jtho.2022.09.109
  • Meri-Abad M, Moreno-Manuel A, Garcia SG, et al. Clinical and technical insights of tumour mutational burden in non-small cell lung cancer. Crit Rev Oncol Hematol. 2023;182:103891. doi: 10.1016/j.critrevonc.2022.103891
  • Zhong WZ, Chen KN, Chen C, et al. Erlotinib versus gemcitabine plus cisplatin as neoadjuvant treatment of stage IIIA-N2 EGFR-Mutant non-small-cell lung cancer (EMERGING-CTONG 1103): a randomized phase II study. J Clin Oncol. 2019;37(25):2235–2245. doi: 10.1200/JCO.19.00075
  • Herbst RS, Wu YL, John T, et al. Adjuvant osimertinib for resected EGFR-Mutated stage IB-IIIA non-small-cell lung cancer: updated results from the phase III randomized ADAURA trial. J Clin Oncol. 2023;41(10):1830–1840. doi: 10.1200/JCO.22.02186
  • Zhong WZ, Wang Q, Mao WM, et al. Gefitinib versus vinorelbine plus cisplatin as adjuvant treatment for stage II-IIIA (N1-N2) EGFR-Mutant NSCLC: final overall survival analysis of CTONG1104 phase III trial. J Clin Oncol. 2021;39(7):713–722. doi: 10.1200/JCO.20.01820
  • Yue D, Xu S, Wang Q, et al. Erlotinib versus vinorelbine plus cisplatin as adjuvant therapy in Chinese patients with stage IIIA EGFR mutation-positive non-small-cell lung cancer (EVAN): a randomised, open-label, phase 2 trial. Lancet Respir Med. 2018;6(11):863–873. doi: 10.1016/S2213-2600(18)30277-7
  • Goss GD, O’Callaghan C, Lorimer I, et al. Gefitinib versus placebo in completely resected non-small-cell lung cancer: results of the NCIC CTG BR19 study. J Clin Oncol. 2013;31(27):3320–3326. doi: 10.1200/JCO.2013.51.1816
  • Kelly K, Altorki NK, Eberhardt WE, et al. Adjuvant Erlotinib versus placebo in patients with stage IB-IIIA non-small-cell lung cancer (RADIANT): a randomized, Double-blind, phase III trial. J Clin Oncol. 2015;33(34):4007–4014. doi: 10.1200/JCO.2015.61.8918
  • Provencio M, Serna-Blasco R, Nadal E, et al. Overall survival and biomarker analysis of neoadjuvant nivolumab plus chemotherapy in operable stage IIIA non-small-cell lung cancer (NADIM phase II trial). J Clin Oncol. 2022;40(25):2924–2933. doi: 10.1200/JCO.21.02660
  • Chaft JE, Oezkan F, Kris MG, et al. Neoadjuvant atezolizumab for resectable non-small cell lung cancer: an open-label, single-arm phase II trial. Nat Med. 2022;28(10):2155–2161. doi: 10.1038/s41591-022-01962-5
  • Cascone T, Leung CH, Weissferdt A, et al. Neoadjuvant chemotherapy plus nivolumab with or without ipilimumab in operable non-small cell lung cancer: the phase 2 platform NEOSTAR trial. Nat Med. 2023;29(3):593–604. doi: 10.1038/s41591-022-02189-0
  • Forde PM, Spicer J, Lu S, et al. Neoadjuvant nivolumab plus chemotherapy in resectable lung cancer. N Engl J Med. 2022;386(21):1973–1985.
  • O’Brien M, Paz-Ares L, Marreaud S, et al. Pembrolizumab versus placebo as adjuvant therapy for completely resected stage IB-IIIA non-small-cell lung cancer (PEARLS/KEYNOTE-091): an interim analysis of a randomised, triple-blind, phase 3 trial. Lancet Oncol. 2022;23(10):1274–1286. doi: 10.1016/S1470-2045(22)00518-6
  • Wakelee H, Liberman M, Kato T, et al. Perioperative pembrolizumab for early-stage non-small-cell lung cancer. N Engl J Med. 2023;389(6):491–503. doi: 10.1056/NEJMoa2302983
  • Shi LT, He YY, Yuan ZL, et al. Radiomics for response and outcome assessment for non-small cell lung cancer. Technol Cancer Res Treat. 2018;17:17. doi: 10.1177/1533033818782788
  • Guibert N, Pradines A, Favre G, et al. Current and future applications of liquid biopsy in nonsmall cell lung cancer from early to advanced stages. Eur Respir Rev. 2020;29(155):190052. doi: 10.1183/16000617.0052-2019
  • Esposito A, Criscitiello C, Trapani D, et al. The emerging role of “liquid biopsies,” circulating tumor cells, and circulating cell-free tumor DNA in lung cancer diagnosis and identification of resistance mutations. Curr Oncol Rep. 2017;19(1): doi: 10.1007/s11912-017-0564-y
  • Diao ZL, Han YX, Zhang R, et al. Circulating tumour DNA: a new biomarker to monitor resistance in NSCLC patients treated with EGFR-TKIs. Biochim Et Biophys Acta-Reviews Cancer. 2020;1873(2):188363. doi: 10.1016/j.bbcan.2020.188363
  • Kunimasa K, Nishino K, Sato Y, et al. Fragment size and dynamics of EGFR-mutated tumor-derived DNA provide prognostic information regarding EGFR-TKI efficacy in patients with EGFR-mutated NSCLC. Sci Rep. 2022;12(1): doi: 10.1038/s41598-022-17848-y
  • Ryu WK, Oh S, Lim JH, et al. Monitoring circulating tumor DNA in untreated non-small-cell lung cancer patients. Int J Mol Sci. 2022;23(17):9527. doi: 10.3390/ijms23179527
  • Moding EJ, Diehn M and Wakelee HA. Circulating tumor DNA testing in advanced non-small cell lung cancer. Lung Cancer. 2018;119:42–47. doi: 10.1016/j.lungcan.2018.02.019
  • Corcoran RB, Chabner BA. Application of cell-free DNA analysis to cancer treatment. N Engl J Med. 2018;379(18):1754–1765. doi: 10.1056/NEJMra1706174
  • Jebbink M, van der Wel JWT, van den Broek D, et al. Track and treat in NSCLC (TATIN) - ctDNA guided treatment of early resistance to second-line osimertinib treatment in patients with EGFR mutation positive (EGFRm) NSCLC. Ann Oncol. 2021;32:S1202–S1202. doi: 10.1016/j.annonc.2021.08.1984
  • Kim C, Xi LQ, Cultraro CM, et al. Longitudinal circulating tumor DNA analysis in blood and saliva for prediction of response to osimertinib and disease progression in EGFR-Mutant lung adenocarcinoma. Cancers. 2021;13(13):3342. doi: 10.3390/cancers13133342
  • Song Y, Ma SL, Shi MQ, et al. Predictive and prognostic values of circulating tumor DNA (ctDNA) clearance in osimertinib treated advanced non-small cell lung cancer cohort. J Clin Oncol. 2019;37(15):3036–3036. doi: 10.1200/JCO.2019.37.15_suppl.3036
  • Papadimitrakopoulou VA, Han JY, Ahn MJ, et al. Epidermal growth factor receptor mutation analysis in tissue and plasma from the AURA3 trial: osimertinib versus platinum-pemetrexed for T790M mutation-positive advanced non-small cell lung cancer. Cancer. 2020;126(2):373–380. doi: 10.1002/cncr.32503
  • Gray JE, Peled N, Markovets A, et al. Longitudinal circulating tumour DNA (ctDNA) monitoring for early detection of disease progression and resistance in advanced NSCLC in FLAURA. Ann Oncol. 2019;30:921±. doi: 10.1093/annonc/mdz394.083
  • Hartmaier RJ, Markovets AA, Ahn MJ, et al. Osimertinib plus savolitinib to overcome acquired MET-Mediated resistance in epidermal growth factor receptor-mutated, MET-Amplified non-small cell lung cancer: TATTON. Cancer Discov. 2023;13(1):98–113. doi: 10.1158/2159-8290.CD-22-0586
  • Rolfo C, Mack P, Scagliotti GV, et al. Liquid biopsy for advanced NSCLC: a consensus Statement from the International association for the study of lung cancer. J Thorac Oncol. 2021;16(10):1647–1662. doi: 10.1016/j.jtho.2021.06.017
  • Chen MY, Zeng YC. Pseudoprogression in lung cancer patients treated with immunotherapy. Crit Rev Oncol Hematol. 2022;169:169. doi: 10.1016/j.critrevonc.2021.103531
  • Thompson JC, Carpenter EL, Silva BA, et al. Serial monitoring of circulating tumor DNA by next-generation gene sequencing as a biomarker of response and survival in patients with advanced NSCLC receiving pembrolizumab-based therapy. JCO Precision Oncol. 2021;5(5):510–524. doi: 10.1200/PO.20.00321
  • Assaf ZJF, Zou W, Fine AD, et al. A longitudinal circulating tumor DNA-based model associated with survival in metastatic non-small-cell lung cancer. Nat Med. 2023;29(4):859–868. doi: 10.1038/s41591-023-02226-6
  • Zulato E, Del Bianco P, Nardo G, et al. Longitudinal liquid biopsy anticipates hyperprogression and early death in advanced non-small cell lung cancer patients treated with immune checkpoint inhibitors. Br J Cancer. 2022;127(11):2034–2042. doi: 10.1038/s41416-022-01978-1
  • Fu FQ, Zhou YD, Zhang Y, et al. Lung cancer screening strategy for non-high-risk individuals: a narrative review. Transl Lung Cancer Res. 2021;10(1):452–461. doi: 10.21037/tlcr-20-943
  • Li CC, Wang HT, Jiang Y, et al. Advances in lung cancer screening and early detection. Cancer Biol Ther. 2022;19(5):591–608. doi: 10.20892/j.issn.2095-3941.2021.0690
  • Arbour KC, Riely GJ. Systemic therapy for locally advanced and metastatic non-small cell lung cancer a review. J Am Med Assoc. 2019;322(8):764–774. doi: 10.1001/jama.2019.11058
  • Santarpia M, Liguori A, D’Aveni A, et al. Liquid biopsy for lung cancer early detection. J Thoracic Dis. 2018;10(S7):S882–S897. doi: 10.21037/jtd.2018.03.81
  • Chabon JJ, Hamilton EG, Kurtz DM, et al. Integrating genomic features for non-invasive early lung cancer detection. Nature. 2020;580(7802):245±.
  • Abbosh C, Birkbak NJ, Swanton C. Early stage NSCLC - challenges to implementing ctDNA-based screening and MRD detection. Nat Rev Clin Oncol. 2018;15(9):577–586. doi: 10.1038/s41571-018-0058-3
  • Paiva B, van Dongen JJ, Orfao A. New criteria for response assessment: role of minimal residual disease in multiple myeloma. Blood. 2015;125(20):3059–3068. doi: 10.1182/blood-2014-11-568907
  • Berry DA, Zhou S, Higley H, et al. Association of minimal residual disease with clinical outcome in pediatric and adult acute lymphoblastic leukemia: a meta-analysis. JAMA Oncol. 2017;3(7):e170580.
  • Rothwell DG, Ayub M, Cook N, et al. Utility of ctDNA to support patient selection for early phase clinical trials: the TARGET study. Nat Med. 2019;25(5):738–743. doi: 10.1038/s41591-019-0380-z
  • Garcia-Murillas I, Chopra N, Comino-Méndez I, et al. Assessment of molecular relapse detection in early-stage breast cancer. JAMA Oncol. 2019;5(10):1473–1478.
  • Reinert T, Henriksen TV, Christensen E, et al. Analysis of Plasma cell-free DNA by ultradeep sequencing in patients with stages I to III colorectal cancer. JAMA Oncol. 2019;5(8):1124–1131.
  • Abbosh C, Birkbak NJ, Wilson GA, et al. Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution. Nature. 2017;545(7655):446–451. doi: 10.1038/nature22364
  • Pellini B, Chaudhuri AA. Circulating tumor DNA minimal residual disease detection of non-small-cell lung cancer treated with curative intent. J Clin Oncol. 2022;40(6):567–575. doi: 10.1200/JCO.21.01929
  • Abbosh C, Frankell AM, Harrison T, et al. Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA. Nature. 2023;616(7957):553–562.
  • Zhang JT, Liu SY, Gao W, et al. Longitudinal undetectable molecular residual disease defines potentially cured population in localized non-small cell lung cancer. Cancer Discov. 2022;12(7):1690–1701.**. doi: 10.1158/2159-8290.CD-21-1486
  • Qiu B, Guo W, Zhang F, et al. Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC. Nat Commun. 2021;12(1):6770.
  • Kuang PP, Li N, Liu Z, et al. Circulating tumor DNA analyses as a potential marker of recurrence and effectiveness of adjuvant chemotherapy for resected non-small-cell lung cancer. Front Oncol. 2020;10:595650. doi: 10.3389/fonc.2020.595650
  • Xia L, Mei J, Kang R, et al. Perioperative ctDNA-Based molecular residual disease detection for non-small cell lung cancer: a prospective multicenter cohort study (LUNGCA-1). Clin Cancer Res. 2022;28(15):3308–3317. doi: 10.1158/1078-0432.CCR-21-3044
  • Wu YL, Lu S, Cheng Y, et al. Expert consensus of molecular residual disease for non-small cell lung cancer. Chin J Evidence-Based Med. 2021;21(2):129–135.
  • Moding EJ, Liu Y, Nabet BY, et al. Circulating tumor DNA dynamics predict benefit from consolidation immunotherapy in locally advanced non-small cell lung cancer. Nat Cancer. 2020;1(2):176–183. doi: 10.1038/s43018-019-0011-0
  • Chaudhuri AA, Chabon JJ, Lovejoy AF, et al. Early detection of molecular residual disease in localized lung cancer by circulating tumor DNA profiling. Cancer Discov. 2017;7(12):1394–1403. doi: 10.1158/2159-8290.CD-17-0716
  • Horn L, Mansfield AS, Szczęsna A, et al. First-line atezolizumab plus chemotherapy in extensive-stage small-cell lung cancer. N Engl J Med. 2018;379(23):2220–2229. doi: 10.1056/NEJMoa1809064
  • Goldman JW, Dvorkin M, Chen Y, et al. Durvalumab, with or without tremelimumab, plus platinum-etoposide versus platinum-etoposide alone in first-line treatment of extensive-stage small-cell lung cancer (CASPIAN): updated results from a randomised, controlled, open-label, phase 3 trial. Lancet Oncol. 2021;22(1):51–65. doi: 10.1016/S1470-2045(20)30539-8
  • Febres-Aldana CA, Chang JC, Ptashkin R, et al. Rb tumor suppressor in small cell lung cancer: combined genomic and IHC analysis with a description of a distinct Rb-proficient subset. Clin Cancer Res. 2022;28(21):4702–4713. doi: 10.1158/1078-0432.CCR-22-1115
  • Larson NB, Oberg AL, Adjei AA, et al. A clinician’s guide to bioinformatics for next-generation sequencing. J Thorac Oncol. 2023;18(2):143–157. doi: 10.1016/j.jtho.2022.11.006
  • Singh RR. Next-generation sequencing in high-sensitive detection of mutations in tumors challenges, advances, and applications. J Mol Diagn. 2020;22(8):994–1007. doi: 10.1016/j.jmoldx.2020.04.213
  • Zhang YC. Zhou Q and Wu YL the emerging roles of NGS-based liquid biopsy in non-small cell lung cancer. J Hematol Oncol. 2017;10(1):10. doi: 10.1186/s13045-017-0536-6
  • Filipska M, Rosell R. Mutated circulating tumor DNA as a liquid biopsy in lung cancer detection and treatment. Mol Oncol. 2021;15(6):1667–1682. doi: 10.1002/1878-0261.12983
  • Ignatiadis M, Sledge GW, Jeffrey SS. Liquid biopsy enters the clinic - implementation issues and future challenges. Nat Rev Clin Oncol. 2021;18(5):297–312.
  • Athanasopoulou K, Boti MA, Adamopoulos PG, et al. Third-generation sequencing: the spearhead towards the radical transformation of modern genomics. Life-Basel. 2022;12(1):30. doi: 10.3390/life12010030
  • McGinn S, Gut IG. DNA sequencing - spanning the generations. New Biotechnology. 2013;30(4):366–372. doi: 10.1016/j.nbt.2012.11.012
  • Liam CK, Mallawathantri S, Fong KM. Is tissue still the issue in detecting molecular alterations in lung cancer? Respirology. 2020;25(9):933–943. doi: 10.1111/resp.13823
  • Chen KZ, Zhao H, Shi YB, et al. Perioperative dynamic changes in circulating tumor DNA in patients with lung cancer (DYNAMIC). Clin Cancer Res. 2019;25(23):7058–7067. doi: 10.1158/1078-0432.CCR-19-1213
  • Martínez-Ruiz C, Black JRM, Puttick C, et al. Genomic-transcriptomic evolution in lung cancer and metastasis. Nature. 2023;616(7957):543–552. doi: 10.1038/s41586-023-05706-4
  • Al Bakir M, Huebner A, Martínez-Ruiz C, et al. The evolution of non-small cell lung cancer metastases in TRACERx. Nature. 2023;616(7957):534–542.**. doi: 10.1038/s41586-023-05729-x
  • Frankell AM, Dietzen M, Al Bakir M, et al. The evolution of lung cancer and impact of subclonal selection in TRACERx. Nature. 2023;616(7957):525–533.**. doi: 10.1038/s41586-023-05783-5
  • Marcus L, Fashoyin-Aje LA, Donoghue M, et al. FDA approval summary: pembrolizumab for the treatment of tumor mutational burden-high solid for tumors. Clin Cancer Res. 2021;27(17):4685–4689.
  • Cristescu R, Aurora-Garg D, Albright A, et al. Tumor mutational burden predicts the efficacy of pembrolizumab monotherapy: a pan-tumor retrospective analysis of participants with advanced solid tumors. J Immunother Cancer. 2022;10(1): doi: 10.1136/jitc-2021-003091
  • Sholl LM, Hirsch FR, Hwang D, et al. The promises and challenges of tumor mutation burden as an immunotherapy biomarker: a perspective from the international association for the study of lung cancer pathology committee. J Thorac Oncol. 2020;15(9):1409–1424.
  • Liu SV, Horn L, Mok T, et al. IMpower133: characterisation of long-term survivors treated first-line with chemotherapy ± atezolizumab in extensive-stage small cell lung cancer. Ann Oncol. 2020;31:S1032–S1033. doi: 10.1016/j.annonc.2020.08.1543
  • Peters S, Dziadziuszko R, Morabito A, et al. Atezolizumab versus chemotherapy in advanced or metastatic NSCLC with high blood-based tumor mutational burden: primary analysis of BFAST cohort C randomized phase 3 trial. Nature Med. 2022;28(9):1831±. doi: 10.1038/s41591-022-01933-w
  • Langer C, Gadgeel S, Borghaei H, et al. KEYNOTE-021: TMB and outcomes for carboplatin and pemetrexed with or without pembrolizumab for nonsquamous NSCLC. J Thorac Oncol. 2019;14(10):S216–S216.
  • Wang ZJ, Duan JC, Wang GQ, et al. Allele frequency-adjusted blood-based tumor mutational burden as a predictor of overall survival for patients with NSCLC treated with PD-(L)1 inhibitors. J Thorac Oncol. 2020;15(4):556–567.*. doi: 10.1016/j.jtho.2019.12.001
  • Liu ZC, Xie ZH, Cai XY, et al. A modi fied algorithm adjusting both high and minor allele frequency mutation to rede fine blood-based tumor mutational burden (bTMB) for optimal prediction of clinical bene fits from immune checkpoint inhibitor therapy. J Thorac Oncol. 2020;15(5):E69–E72. doi: 10.1016/j.jtho.2019.12.120
  • Jiang T, Chen JH, Xu XX, et al. On-treatment blood TMB as predictors for camrelizumab plus chemotherapy in advanced lung squamous cell carcinoma: biomarker analysis of a phase III trial. Mol Cancer. 2022;21(1):4. doi: 10.1186/s12943-021-01479
  • Cuppens K, Baas P, Geerdens E, et al. HLA-I diversity and tumor mutational burden by comprehensive next-generation sequencing as predictive biomarkers for the treatment of non-small cell lung cancer with PD-(L)1 inhibitors. Lung Cancer. 2022;170:1–10. doi: 10.1016/j.lungcan.2022.05.019
  • McGranahan N, Rosenthal R, Hiley CT, et al. Allele-specific HLA loss and immune escape in lung cancer evolution. Cell. 2017;171(6):1259±. doi: 10.1016/j.cell.2017.10.001

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.