Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Lescuyer, G; Harlé, A; Shankar, Kumar, H; Constantoulakis, P; Pfarr, N; Heitzer, E; Michon, C; Russo, G; Speel, EM; Piecyk, M; Husson, M; Christopoulou, G; Mayr, EM; Koppermann, ML; Passot, C; Graf, R; Aoul, AH; Bourdon, V; Dubbink, HJ; van, Marion, R; Demers, I; Dingemans, AC; Troncone, G; Pepe, F; Muinelo-Romay, L; Díaz-Lagares, Á; Rodriguez-Casanova, A; Lago, Lestón, RM; Pathak, D; Shah, P; Parillaud, RV; Martínez, de, Ilarduya, O; Behr, J; Rapin, A; Vetterli, T; Boppudi, SM; Malapelle, U; Payen, L.
Analytical Validation of a Pan-Cancer NGS Assay for In-House Liquid Biopsy Testing: An International Multicenter Study.
J Mol Diagn. 2025;
Doi: 10.1016/j.jmoldx.2025.08.008
PubMed
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- Co-Autor*innen der Med Uni Graz
- Graf Ricarda
- Heitzer Ellen
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- Abstract:
- Liquid biopsy (LBx) assays are transforming precision oncology by providing a less invasive alternative to tissue biopsies. These assays screen for tumour genetic alterations in circulating free DNA (cfDNA), which typically requires detecting variants at low allele frequencies and therefore a high sensitivity and specificity. This international, multicenter analytical performance study evaluated the Hedera Profiling 2 ctDNA test panel (HP2) (Hedera Dx, Epalinges, Switzerland), a hybrid capture-based NGS assay for the detection of somatic alterations in cfDNA. Covering 32 genes, HP2 enables the detection of SNVs, Indels, Fusions, CNVs, and MSI status from a single DNA-only workflow. The analytical performance was assessed using reference standards and a diverse cohort of 137 clinical samples pre-characterized by orthogonal methods. In reference standards with variants spiked-in at 0.5% allele frequency, sensitivity and specificity were 96.92% and 99.67% respectively for SNVs/Indels and 100% for Fusions. In clinical samples, SNVs/Indels detection showed high concordance (94% for ESCAT Level I variants) with orthogonal methods. Evidence for solid sensitivity was also found for CNV detection and MSI status determination. Overall, the HP2 assay showed significant potential as a sensitive and efficient Pan-Cancer test for LBx testing in a decentralized molecular pathology laboratory setting.