Previous Article in Journal
Mechanism of Sepsis
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
JMP
Volume 6
Issue 3
10.3390/jmp6030019
jmp-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Brief Report

ERBB2 Mutation Testing in NSCLC: A Pan-European Real-World Evaluation of the Oncomine Precision Assay

by
Ilaria Alborelli
1,
Melanie Demes
2,
Peter Wild
2,
Susana Hernandez
3,
Fernando Lopez-Rios
4,
Olivier Bordone
5,
Christophe Bontoux
5,
Paul Hofman
5,
Caterina De Luca
6,
Giancarlo Troncone
6,
Luisella Righi
7,
Umberto Malapelle
6,
Ricella Souza da Silva
8,
Luis Cirnes
8,
Fernando Schmitt
8,
Eveline Keller
1,
Philip M. Jermann
9,
John Longshore
10 and
Lukas Bubendorf
1,*
1
Institute of Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland
2
Dr. Senckenberg Institute of Pathology (SIP), University Hospital Frankfurt, Goethe University, 60590 Frankfurt am Main, Germany
3
Department of Pathology, Hospital Universitario 12 de Octubre, Research Institute 12 de Octubre University Hospital (i+12), 28041 Madrid, Spain
4
Department of Pathology, 12 de Octubre University Hospital-CIBERONC, Research Institute 12 de Octubre University Hospital (i+12), Universidad Complutense, 28041 Madrid, Spain
5
Laboratory of Clinical and Experimental Pathology, IHU RespirERA, FHU OncoAge, BB-0033-00025, Centre Hospitalier Universitaire de Nice, Université Côte d’Azur, 06200 Nice, France
6
Department of Public Health, University of Naples Federico II, 80131 Naples, Italy
7
Department of Pathology, University of Turin, 10124 Turin, Italy
8
IPATIMUP Diagnostics, IPATIMUP–Institute of Molecular Pathology and Immunology of Porto University, 4200-135 Porto, Portugal
9
Thermo Fisher Scientific, Waltham, MA 17111, USA
10
Astra Zeneca, 1800 Concord Pike, Wilmington, DE 19803, USA
*
Author to whom correspondence should be addressed.
J. Mol. Pathol. 2025, 6(3), 19; https://doi.org/10.3390/jmp6030019
Submission received: 14 February 2025 / Revised: 18 April 2025 / Accepted: 1 August 2025 / Published: 14 August 2025
Review Reports Versions Notes

Abstract

Background/Objectives: The non-small-cell lung cancer (NSCLC) therapeutic landscape has undergone a profound transformation with the introduction of multiple personalized treatment options. Mutations in ERBB2 (HER2) have recently emerged as promising novel targets for the treatment of non-squamous NSCLC (nsNSCLC). Accurate, rapid, and efficient molecular profiling is crucial for identifying patients who may benefit from targeted therapies, including HER2-directed agents. Materials and Methods: Here, we aimed to retrospectively assess the performance of the Oncomine™ Precision Assay* (OPA) in combination with the Ion Torrent Genexus™ Integrated Sequencer* (Thermo Fisher Scientific. Waltham, MA, USA) for detecting ERBB2 mutations in nsNSCLC. A total of 108 archived nsNSCLC samples, consisting of biopsies, resections, and cytological specimens, were used to assess concordance with in-house-validated orthogonal tests. Results: The OPA showed high sensitivity and specificity with an overall accuracy of 100% for single-nucleotide variants (SNVs) and insertions and deletions (Indels). SNVs and Indels with allele frequencies as low as 5% were correctly identified across samples with a tumor cell content ranging from 5% to 95%. Additionally, the assay demonstrated high reproducibility across the six participating laboratories. The turnaround time of the OPA was notably shorter compared to traditional orthogonal methods, facilitating rapid molecular report generation. Conclusions: The OPA in combination with the Ion Torrent Genexus™ System allows for highly sensitive and specific detection of relevant ERBB2 mutations. The assay’s streamlined workflow, coupled with its automated data analysis pipeline, enables a fast turnaround time for testing across a range of sample types. This includes samples with reduced tumor cell content and limited available input. This study demonstrates the future potential of using this assay in a clinical setting.
Keywords: NGS; molecular diagnostics; targeted therapy NGS; molecular diagnostics; targeted therapy

Share and Cite

MDPI and ACS Style

Alborelli, I.; Demes, M.; Wild, P.; Hernandez, S.; Lopez-Rios, F.; Bordone, O.; Bontoux, C.; Hofman, P.; De Luca, C.; Troncone, G.; et al. ERBB2 Mutation Testing in NSCLC: A Pan-European Real-World Evaluation of the Oncomine Precision Assay. J. Mol. Pathol. 2025, 6, 19. https://doi.org/10.3390/jmp6030019

AMA Style

Alborelli I, Demes M, Wild P, Hernandez S, Lopez-Rios F, Bordone O, Bontoux C, Hofman P, De Luca C, Troncone G, et al. ERBB2 Mutation Testing in NSCLC: A Pan-European Real-World Evaluation of the Oncomine Precision Assay. Journal of Molecular Pathology. 2025; 6(3):19. https://doi.org/10.3390/jmp6030019

Chicago/Turabian Style

Alborelli, Ilaria, Melanie Demes, Peter Wild, Susana Hernandez, Fernando Lopez-Rios, Olivier Bordone, Christophe Bontoux, Paul Hofman, Caterina De Luca, Giancarlo Troncone, and et al. 2025. "ERBB2 Mutation Testing in NSCLC: A Pan-European Real-World Evaluation of the Oncomine Precision Assay" Journal of Molecular Pathology 6, no. 3: 19. https://doi.org/10.3390/jmp6030019

APA Style

Alborelli, I., Demes, M., Wild, P., Hernandez, S., Lopez-Rios, F., Bordone, O., Bontoux, C., Hofman, P., De Luca, C., Troncone, G., Righi, L., Malapelle, U., Souza da Silva, R., Cirnes, L., Schmitt, F., Keller, E., Jermann, P. M., Longshore, J., & Bubendorf, L. (2025). ERBB2 Mutation Testing in NSCLC: A Pan-European Real-World Evaluation of the Oncomine Precision Assay. Journal of Molecular Pathology, 6(3), 19. https://doi.org/10.3390/jmp6030019

Article Metrics

Back to TopTop