Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Berger, M; Thueringer, A; Franz, D; Dandachi, N; Talakić, E; Richtig, G; Richtig, E; Rohrer, PM; Koch, L; Wolf, IH; Koch, C; Rainer, BM; Koeller, M; Pichler, M; Gerritsmann, H; Kashofer, K; Aigelsreiter, A.
Circulating Tumor DNA as a Marker for Treatment Response in Metastatic Melanoma Patients Using Next-Generation Sequencing-A Prospective Feasibility Study.
Cancers (Basel). 2021; 13(12):
Doi: 10.3390/cancers13123101
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- Leading authors Med Uni Graz
- Aigelsreiter Ariane
- Berger Marina
- Kashofer Karl
- Co-authors Med Uni Graz
- Dandachi Nadia
- Franz Doritt Franziska
- Koch Catharina
- Koch Lukas
- Pichler Martin
- Rainer Barbara
- Richtig Erika
- Richtig Georg
- Rohrer Peter Michael
- Talakic Emina
- Wolf Ingrid
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- Abstract:
- We prospectively performed a longitudinal analysis of circulating tumor DNA (ctDNA) from 149 plasma samples and CT scans in Stage III and IV metastatic melanoma patients (n = 20) treated with targeted agents or immunotherapy using two custom next-generation sequencing (NGS) Ion AmpliSeq™ HD panels including 60 and 81 amplicons in 18 genes, respectively. Concordance of matching cancer-associated mutations in tissue and plasma was 73.3%. Mutant allele frequency (MAF) levels showed a range from 0.04% to 28.7%, well detectable with NGS technologies utilizing single molecule tagging like the AmpliSeq™ HD workflow. Median followup time of the tissue and/or plasma positive cohort (n = 15) was 24.6 months and median progression-free survival (PFS) was 7.8 months. Higher MAF ≥ 1% at baseline was not significantly associated with a risk of progression (Odds Ratio = 0.15; p = 0.155). Although a trend could be seen, MAF levels did not differ significantly over time between patients with and without a PFS event (p = 0.745). Depending on the cell-free DNA amount, NGS achieved a sensitivity down to 0.1% MAF and allowed for parallel analysis of multiple mutations and previously unknown mutations. Our study indicates that NGS gene panels could be useful for monitoring disease burden during therapy with ctDNA in melanoma patients.
- Find related publications in this database (Keywords)
- metastatic melanoma
- circulating tumor DNA
- next-generation sequencing
- custom panels
- treatment monitoring