{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T11:30:28Z","timestamp":1779103828783,"version":"3.51.4"},"reference-count":51,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T00:00:00Z","timestamp":1603324800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2019s Horizon 2020 research and innovation program under the Marie Sk\u0142odowska-Curie grant agreement","award":["No 765492"],"award-info":[{"award-number":["No 765492"]}]},{"name":"CANCER-ID, IMI","award":["grant (n\u00b0 115749)"],"award-info":[{"award-number":["grant (n\u00b0 115749)"]}]},{"DOI":"10.13039\/100016077","name":"EU","doi-asserted-by":"publisher","award":["(FP7\/2007-2013)"],"award-info":[{"award-number":["(FP7\/2007-2013)"]}],"id":[{"id":"10.13039\/100016077","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Circulating tumor DNA (ctDNA) has shown great promise as a minimally invasive liquid biopsy for personalized cancer diagnostics especially among metastatic patients. Here, we used a novel sensitive assay to detect clinically relevant mutations in ctDNA in blood plasma from metastatic non-small cell lung cancer (NSCLC) patients, including patients with a limited oligo\u2013brain metastatic disease. We analyzed 66 plasma samples from 56 metastatic NSCLC patients for 74 hotspot mutations in five genes commonly mutated in NSCLC using a novel MassARRAY-based lung cancer panel with a turnaround time of only 3 days. Mutations in plasma DNA could be detected in 28 out of 56 patients (50.0%), with a variant allele frequency (VAF) ranging between 0.1% and 5.0%. Mutations were detected in 50.0% of patients with oligo\u2013brain metastatic disease, although the median VAF was lower (0.4%) compared to multi-brain metastatic patients (0.9%) and patients with extra-cranial metastatic progression (1.2%). We observed an overall concordance of 86.4% (n = 38\/44) for EGFR status between plasma and tissue. The MassARRAY technology can detect clinically relevant mutations in plasma DNA from metastatic NSCLC patients including patients with limited, oligo\u2013brain metastatic disease.<\/jats:p>","DOI":"10.3390\/cells9112337","type":"journal-article","created":{"date-parts":[[2020,10,22]],"date-time":"2020-10-22T20:51:00Z","timestamp":1603399860000},"page":"2337","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay"],"prefix":"10.3390","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2514-3713","authenticated-orcid":false,"given":"Yassine","family":"Belloum","sequence":"first","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6632-8506","authenticated-orcid":false,"given":"Melanie","family":"Janning","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"},{"name":"Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"},{"name":"Division of Personalized Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany"},{"name":"Department of Personalized Oncology, University Hospital Mannheim, University of Heidelberg, 68167 Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Malte","family":"Mohme","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0158-4258","authenticated-orcid":false,"given":"Ronald","family":"Simon","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanthe","family":"Kropidlowski","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Sartori","sequence":"additional","affiliation":[{"name":"Agena Bioscience GmbH, 22761 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darryl","family":"Irwin","sequence":"additional","affiliation":[{"name":"Agena Bioscience GmbH, 22761 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manfred","family":"Westphal","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"Lamszus","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Loges","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"},{"name":"Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"},{"name":"Division of Personalized Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany"},{"name":"Department of Personalized Oncology, University Hospital Mannheim, University of Heidelberg, 68167 Mannheim, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Riethdorf","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5736-2772","authenticated-orcid":false,"given":"Klaus","family":"Pantel","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6862-0888","authenticated-orcid":false,"given":"Harriet","family":"Wikman","sequence":"additional","affiliation":[{"name":"Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, 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