{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,18]],"date-time":"2025-12-18T14:27:15Z","timestamp":1766068035620,"version":"build-2065373602"},"reference-count":25,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T00:00:00Z","timestamp":1721865600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Lung cancer is the leading cause of cancer mortality worldwide. Fortunately, the advent of precision medicine, which includes targeted therapy and immunotherapy, offers hope. However, identifying specific mutations is imperative before initiating precise medications. Traditional methods, such as real-time PCR examination of individual mutations, are time-consuming. Contemporary techniques, such as tissue- and plasma-based next-generation sequencing (NGS), allow comprehensive genome analysis concurrently. Notably, plasma-based NGS has a shorter turnaround time (TAT) and thus a shorter time-to-treatment (TTT). In this case report, we demonstrate the benefits of plasma-based NGS before pathological diagnosis in a patient with image-suspected non-small cell lung cancer (NSCLC). An 82-year-old Taiwanese woman presented with lower back pain persisting for one month and left-sided weakness for two weeks. Whole-body computed tomography (CT) revealed lesions suspicious for brain and bone metastases, along with a mass consistent with a primary tumor in the left upper lobe, indicative of advanced NSCLC with T4N3M1c staging. The patient underwent a bronchoscopic biopsy on Day 0, and the preliminary report that came out on Day 1 was suggestive of metastatic NSCLC. Blood was also collected for plasma-based NGS on Day 0. The patient was Coronavirus disease 2019-positive and was treated with molnupiravir on Day 6. On Day 7, pathology confirmed pulmonary adenocarcinoma, and the results of plasma-based NGS included EGFR L858R mutation. The patient was started on targeted therapy (afatinib) on Day 9. Unfortunately, the patient died of hypoxic respiratory failure on Day 26, a complication of underlying viral infection. Plasma-based NGS offers a rapid and efficient means of mutation detection in NSCLC, streamlining treatment initiation and potentially improving the negative emotions of patients. Its utility, particularly in regions with a high prevalence of specific mutations, such as EGFR alterations in East Asian populations, highlights its relevance in guiding personalized therapy decisions.<\/jats:p>","DOI":"10.3390\/ijms25158124","type":"journal-article","created":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T13:10:28Z","timestamp":1721913028000},"page":"8124","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Utilizing Plasma-Based Next-Generation Sequencing to Expedite the Diagnostic Process in Suspected Lung Cancer: A Case Report"],"prefix":"10.3390","volume":"25","author":[{"given":"Chia-Min","family":"Hung","sequence":"first","affiliation":[{"name":"College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"},{"name":"Chang Gung Memorial Hospital at Linkou, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Te","family":"Wu","sequence":"additional","affiliation":[{"name":"College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"},{"name":"Department of Medical Imaging and Intervention, Chang Gung Memorial Hospital at Linkou, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2223-9181","authenticated-orcid":false,"given":"Suyog","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Medical Affairs, Guardant Health AMEA, Singapore 138543, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1081-8805","authenticated-orcid":false,"given":"Chiao-En","family":"Wu","sequence":"additional","affiliation":[{"name":"College of Medicine, Chang Gung University, Taoyuan 333, Taiwan"},{"name":"Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Taoyuan 333, Taiwan"},{"name":"Division of Hematology-Oncology, Department of Internal Medicine, New Taipei Municipal TuCheng Hospital, New Taipei City 236, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.3322\/caac.21763","article-title":"Cancer statistics, 2023","volume":"73","author":"Siegel","year":"2023","journal-title":"CA Cancer J. Clin."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Inamura, K. (2018). Update on Immunohistochemistry for the Diagnosis of Lung Cancer. Cancers, 10.","DOI":"10.3390\/cancers10030072"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"668","DOI":"10.5858\/arpa.2012-0263-RA","article-title":"Diagnosis of Lung Cancer in Small Biopsies and Cytology","volume":"137","author":"Travis","year":"2012","journal-title":"Arch. Pathol. Lab. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.1002\/(SICI)1097-0142(19980415)82:8<1419::AID-CNCR1>3.0.CO;2-4","article-title":"Utilization of polymerase chain reaction technology in the detection of solid tumors","volume":"82","author":"Raj","year":"1998","journal-title":"Cancer"},{"key":"ref_5","first-page":"100538","article-title":"Spatial tumor biopsy with fluorescence PCR microneedle array","volume":"5","author":"Zhang","year":"2024","journal-title":"Innovation"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"8233","DOI":"10.1021\/nn302917e","article-title":"Array-based sensing of metastatic cells and tissues using nanoparticle-fluorescent protein conjugates","volume":"6","author":"Rana","year":"2012","journal-title":"ACS Nano"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"13386","DOI":"10.1021\/ja304239g","article-title":"Specific cell surface protein imaging by extended self-assembling fluorescent turn-on nanoprobes","volume":"134","author":"Mizusawa","year":"2012","journal-title":"J. Am. Chem. Soc."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Chrzanowska, N.M., Kowalewski, J., and Lewandowska, M.A. (2020). Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors. Molecule, 25.","DOI":"10.3390\/molecules25081864"},{"key":"ref_9","first-page":"3855","article-title":"Tumor microenvironment: Recent advances in various cancer treatments","volume":"22","author":"Wang","year":"2018","journal-title":"Eur. Rev. Med. Pharmacol. Sci."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1038\/bjc.2016.452","article-title":"Tissue-based next generation sequencing: Application in a universal healthcare system","volume":"116","author":"Hynes","year":"2017","journal-title":"Br. J. Cancer"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1038\/s41379-021-00880-0","article-title":"Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung adenocarcinomas","volume":"34","author":"Lin","year":"2021","journal-title":"Mod. Pathol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1506","DOI":"10.1158\/1078-0432.CCR-22-1749","article-title":"A Large-Scale Prospective Concordance Study of Plasma- and Tissue-Based Next-Generation Targeted Sequencing for Advanced Non-Small Cell Lung Cancer (LC-SCRUM-Liquid)","volume":"29","author":"Sugimoto","year":"2023","journal-title":"Clin. Cancer Res."},{"key":"ref_13","first-page":"100301","article-title":"Plasma genotyping at the time of diagnostic tissue biopsy decreases time-to-treatment in patients with advanced NSCLC\u2014Results from a prospective pilot study","volume":"8","author":"Thompson","year":"2022","journal-title":"JTO Clin. Res. Rep."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e643","DOI":"10.1200\/JOP.2015.009605","article-title":"Typical Time to Treatment of Patients with Lung Cancer in a Multisite, US-Based Study","volume":"12","author":"Vidaver","year":"2016","journal-title":"J. Oncol. Pract."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Xie, J., Yao, W., Chen, L., Zhu, W., Liu, Q., Geng, G., Fang, J., Zhao, Y., Xiao, L., and Huang, Z. (2023). Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers. BMC Cancer, 23.","DOI":"10.1186\/s12885-023-10674-z"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1001\/jamaoncol.2018.4305","article-title":"Clinical Implications of Plasma-Based Genotyping with the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer","volume":"5","author":"Aggarwal","year":"2019","journal-title":"JAMA Oncol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1159\/000499337","article-title":"Liquid Biopsy: General Concepts","volume":"63","author":"Poulet","year":"2019","journal-title":"Acta Cytol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"113310","DOI":"10.1016\/j.ejca.2023.113310","article-title":"Upfront liquid next-generation sequencing in treatment-na\u00efve advanced non-small cell lung cancer patients: A prospective randomised study in the Taiwanese health system","volume":"193","author":"Yang","year":"2023","journal-title":"Eur. J. Cancer"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"4691","DOI":"10.1158\/1078-0432.CCR-19-0624","article-title":"Clinical Utility of Comprehensive Cell-free DNA Analysis to Identify Genomic Biomarkers in Patients with Newly Diagnosed Metastatic Non\u2013small Cell Lung Cancer","volume":"25","author":"Leighl","year":"2019","journal-title":"Clin. Cancer Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1200\/PO.20.00241","article-title":"Biomarker Discovery and Outcomes for Comprehensive Cell-Free Circulating Tumor DNA Versus Standard-of-Care Tissue Testing in Advanced Non-Small-Cell Lung Cancer","volume":"5","author":"Palmero","year":"2021","journal-title":"JCO Precis. Oncol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1200\/PO.21.00029","article-title":"Plasma cfDNA genotyping in hospitalized patients with suspected metastatic NSCLC","volume":"5","author":"Cheng","year":"2021","journal-title":"JCO Precis. Oncol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"9019","DOI":"10.1200\/JCO.2023.41.16_suppl.9019","article-title":"LIBELULE: A randomized phase III study to evaluate the clinical relevance of early liquid biopsy (LB) in patients with suspicious metastatic lung cancer","volume":"41","author":"Swalduz","year":"2023","journal-title":"J. Clin. Oncol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"217","DOI":"10.5306\/wjco.v12.i4.217","article-title":"Oncogenic driver mutations in non-small cell lung cancer: Past, present and future","volume":"12","author":"Chevallier","year":"2021","journal-title":"World J. Clin. Oncol."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Hsu, K.H., Ho, C.C., Hsia, T.C., Tseng, J.S., Su, K.Y., Wu, M.F., Chiu, K.L., Yang, T.Y., Chen, K.C., and Ooi, H. (2015). Identification of Five Driver Gene Mutations in Patients with Treatment-Na\u00efve Lung Adenocarcinoma in Taiwan. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0120852"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"107680","DOI":"10.1016\/j.lungcan.2024.107680","article-title":"Estimating the health benefits of introducing ctDNA next generation sequencing to the diagnostic pathway for advanced lung cancer: A modelling study","volume":"190","author":"Navani","year":"2024","journal-title":"Lung Cancer"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/15\/8124\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:23:22Z","timestamp":1760109802000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/15\/8124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,25]]},"references-count":25,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2024,8]]}},"alternative-id":["ijms25158124"],"URL":"https:\/\/doi.org\/10.3390\/ijms25158124","relation":{},"ISSN":["1422-0067"],"issn-type":[{"type":"electronic","value":"1422-0067"}],"subject":[],"published":{"date-parts":[[2024,7,25]]}}}