In-house homologous recombination deficiency testing in ovarian cancer: a multi-institutional Italian pilot study.

ovarian neoplasms pathology, molecular point-of-care testing

Journal

Journal of clinical pathology
ISSN: 1472-4146
Titre abrégé: J Clin Pathol
Pays: England
ID NLM: 0376601

Informations de publication

Date de publication:
18 Apr 2023
Historique:
received: 27 02 2023
accepted: 29 03 2023
pubmed: 19 4 2023
medline: 19 4 2023
entrez: 18 4 2023
Statut: aheadofprint

Résumé

Poly (ADP-ribose) polymerase (PARP) inhibitors (PARPIs) represent a standard of care for the clinical management of high-grade serous ovarian cancer (HGSOC). The recognition of homologous recombination deficiency (HRD) has emerged as a predictive biomarker of response for first-line PARPIs treatment in patients with HGOSC. On the other hand, this test is extremely complex and therefore it is often externalised. Regrettably, the reliability of outsourced HRD testing can be troubled by inconclusive results and high rejection rates. In this methodological study, we assessed the technical feasibility, interassay and interlaboratory reproducibility of in-house HRD testing using three different commercially available next-generation sequencing assays. A total of n=20 epithelial ovarian cancer samples previously analysed with MyChoice CDx were subjected to HRD retesting using three different platforms in three different major pathology laboratories, that is, SOPHiA DDM HRD Solution, HRD focus and Oncomine homologous recombination repair pathway predesigned panel. Concordance was calculated by Cohen's (dual) and Fleiss (triple) κ coefficients. In-house In-house testing for HRD can be reliably performed with commercially available next-generation sequencing assays.

Identifiants

pubmed: 37072171
pii: jcp-2023-208852
doi: 10.1136/jcp-2023-208852
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: EG-R has relevant relationship (advisory fees, honoraria, travel accommodation and expenses, grants and non-financial support) with AstraZeneca, Exact Sciences, GlaxoSmithKline (GSK), Novartis, Roche, Thermo Fisher Scientific unrelated to the current work. MF reports research funding (to Institution) from QED, Macrophage pharma, Astellas, Diaceutics; personal honoraria as invited speaker from Roche, Astellas, AstraZeneca, Incyte, Bristol Myers Squibb (BMS), Merck Serono, Pierre Fabre, GSK, Novartis, Amgen; participation in advisory board for Amgen, Astellas, Roche, Merck Serono, GSK, Novartis, Janssen unrelated to the current work. NF reports honoraria from Merck Sharp and Dohme (MSD), Boehringer Ingelheim, Novartis, AstraZeneca and Daiichi Sankyo unrelated to the current work. CDA Consulting/Advisor: Roche, AstraZeneca, Lilly, GSK, Novartis, Pfizer, Seagen Honoraria: Novartis, Pfizer, Lilly. Research funding to the institution: Novartis, Daiichi Sankyo. Travel, accommodation, expenses: Roche, AstraZeneca, Lilly, GSK, Novartis, Celgene, Pfizer unrelated to the current work. GV reports speaking honoraria from PharmaMar, AstraZeneca, Roche, Clovis and GSK-Tesaro and travel grants from GSK-Tesaro and PharmaMar and has been part of the advisory boards of Tesaro, Amgen and PharmaMar outside of the submitted work. UM has received personal fees (as consultant and/or speaker bureau) from Boehringer Ingelheim, Roche, MSD, Amgen, Thermo Fisher Scientific, Eli Lilly, Diaceutics, GSK, Merck and AstraZeneca, Janssen, Diatech, Novartis and Hedera unrelated to the current work. GT reports personal fees (as speaker bureau or advisor) from Roche, MSD, Pfizer, Boehringer Ingelheim, Eli Lilly, BMS, GSK, Menarini, AstraZeneca, Amgen and Bayer, unrelated to the current work. MB has received honoraria for consulting, advisory role, speakers’ bureau, travel, accommodation, expenses from MSD Oncology, Roche/Genetech, AstraZeneca, Thermo Fisher Scientific, GSK and Illumina unrelated to the current work.

Auteurs

Francesco Pepe (F)

Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy.

Elena Guerini-Rocco (E)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy.

Matteo Fassan (M)

Department of Medicine (DIMED), Surgical Pathology & Cytopathology Unit, University of Padua, Padova, Italy.
Istituto Oncologico Veneto IRCCS, Padova, Italy.

Nicola Fusco (N)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, Via Festa del Perdono 7, 20122, Milan, Italy.

Davide Vacirca (D)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Alberto Ranghiero (A)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Konstantinos Venetis (K)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Alessandra Rappa (A)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Sergio Vincenzo Taormina (SV)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Gianluca Russo (G)

Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy.

Elena Rebellato (E)

Department of Medicine (DIMED), Surgical Pathology & Cytopathology Unit, University of Padua, Padova, Italy.

Giada Munari (G)

Istituto Oncologico Veneto IRCCS, Padova, Italy.

Andrea Moreno-Manuel (A)

Molecular Oncology Laboratory, Fundación Investigación Hospital General Universitario de Valencia, 46014, Valencia, Spain.
TRIAL Mixed Unit, Centro Investigación Príncipe Felipe-Fundación Investigación Hospital General Universitario de Valencia, Valencia, Spain.
Centro de Investigación Biomédica en Red Cáncer, CIBERONC, Madrid, Spain.

Carmine De Angelis (C)

Department of Clinical Medicine and Surgery, University Federico II, Naples, Italy.

Claudio Zamagni (C)

Unit of Oncology, IRCCS Azienda Ospedaliero, Universitaria di Bologna, Bologna, Italy.

Giorgio Valabrega (G)

Department of Oncology, University of Torino at Ordine Mauriziano Hospital, Turin, Italy.

Umberto Malapelle (U)

Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy umberto.malapelle@unina.it.

Giancarlo Troncone (G)

Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy.

Massimo Barberis (M)

Division of Pathology, IEO, European Institute of Oncology IRCCS, Via Giuseppe Ripamonti 435, 20141, Milan, Italy.

Antonino Iaccarino (A)

Department of Public Health, Federico II University of Naples, Via S. Pansini, 5, 80131, Naples, Italy.

Classifications MeSH