Fiche publication
Date publication
septembre 2025
Journal
The Journal of molecular diagnostics : JMD
Auteurs
Membres identifiés du Cancéropôle Est :
Pr HARLE Alexandre
Tous les auteurs :
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
Lien Pubmed
Résumé
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.
Référence
J Mol Diagn. 2025 09 25;:
