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Open AccessArticle

Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay

1
Department of Tumor Biology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
2
Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
3
Division of Personalized Medical Oncology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany
4
Department of Personalized Oncology, University Hospital Mannheim, University of Heidelberg, 68167 Mannheim, Germany
5
Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
6
Institute of Pathology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany
7
Agena Bioscience GmbH, 22761 Hamburg, Germany
*
Author to whom correspondence should be addressed.
Shared first author.
Shared last author.
Cells 2020, 9(11), 2337; https://doi.org/10.3390/cells9112337
Received: 17 September 2020 / Revised: 15 October 2020 / Accepted: 19 October 2020 / Published: 22 October 2020
(This article belongs to the Special Issue Liquid Biopsy)
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–brain 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–brain 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–brain metastatic disease. View Full-Text
Keywords: lung cancer; ctDNA; mutations; liquid biopsy; brain metastases lung cancer; ctDNA; mutations; liquid biopsy; brain metastases
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Figure 1

MDPI and ACS Style

Belloum, Y.; Janning, M.; Mohme, M.; Simon, R.; Kropidlowski, J.; Sartori, A.; Irwin, D.; Westphal, M.; Lamszus, K.; Loges, S.; Riethdorf, S.; Pantel, K.; Wikman, H. Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay. Cells 2020, 9, 2337.

AMA Style

Belloum Y, Janning M, Mohme M, Simon R, Kropidlowski J, Sartori A, Irwin D, Westphal M, Lamszus K, Loges S, Riethdorf S, Pantel K, Wikman H. Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay. Cells. 2020; 9(11):2337.

Chicago/Turabian Style

Belloum, Yassine; Janning, Melanie; Mohme, Malte; Simon, Ronald; Kropidlowski, Jolanthe; Sartori, Alexander; Irwin, Darryl; Westphal, Manfred; Lamszus, Katrin; Loges, Sonja; Riethdorf, Sabine; Pantel, Klaus; Wikman, Harriet. 2020. "Discovery of Targetable Genetic Alterations in NSCLC Patients with Different Metastatic Patterns Using a MassARRAY-Based Circulating Tumor DNA Assay" Cells 9, no. 11: 2337.

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