Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Stitz, R; Buder, A; Silye, R; Baumgartner, B; Pühringer, F; Filipits, M; Oberndorfer, E; Heitzer, E.
Validation of a next-generation sequencing assay for the detection of EGFR mutations in cell-free circulating tumor DNA.
EXP MOL PATHOL. 2021; 123: 104685
Doi: 10.1016/j.yexmp.2021.104685
Web of Science
PubMed
FullText
FullText_MUG
- Leading authors Med Uni Graz
- Heitzer Ellen
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- Abstract:
- Detection of EGFR mutations from blood plasma represents a gentle, non-invasive alternative to rebiopsy and can therefore be used for therapy monitoring of non-small-cell lung cancer (NSCLC) patients. The aim of this project was to investigate whether the Reveal ctDNA™ 28 NGS assay (ArcherDX, Boulder, CO), has a comparable sensitivity and specificity to droplet digital PCR (ddPCR, gold-standard) and is therefore suitable for therapy monitoring of progressing lung cancer patients. First, we validated the NGS assay with a commercially available reference material (SeraCare, Massachusetts, US). Using an input of 22 ng, a sensitivity of 96% and a specificity of 100% could be achieved for variant allele frequencies (VAF) of 0.5%. For variants at a VAF of 0.1% the sensitivity was substantially reduced. Next, 28 plasma samples from 16 patients were analyzed and results were compared to existing ddPCR data. This comparative analysis of patient samples revealed a concordance of 91% between NGS and ddPCR. These results confirm that the Reveal ctDNA™ 28 NGS assay can be used for therapy monitoring of patients under TKI therapy. However, due to the slightly superior sensitivity of ddPCR, a combination of NGS (with broad coverage of a large number of genomic loci) and ddPCR (with targeted highly sensitive detection of specific mutations) might be the ideal approach.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult - administration & dosage
- Aged - administration & dosage
- Biomarkers, Tumor - blood
- Carcinoma, Non-Small-Cell Lung - blood, genetics, pathology
- Cell-Free Nucleic Acids - blood, genetics
- Circulating Tumor DNA - blood, genetics
- ErbB Receptors - blood, genetics
- Female - administration & dosage
- High-Throughput Nucleotide Sequencing - administration & dosage
- Humans - administration & dosage
- Liquid Biopsy - administration & dosage
- Male - administration & dosage
- Middle Aged - administration & dosage
- Mutation - genetics
- Find related publications in this database (Keywords)
- Next generation sequencing
- NGS
- Liquid biopsy
- Cell free DNA
- ctDNA
- cfDNA
- ddPCR
- Lung cancer
- Blood
- Mutation
- EGFR
- T790M
- Digital droplet PCR
- NSCLC