Robust Performance of the Novel Research-Use-Only Idylla GeneFusion Assay Using a Diverse Set of Pathological Samples with a Proposed 1-Day Workflow for Advanced NSCLC Evaluation

A range of different techniques are available for predictive biomarker testing for non-small-cell lung cancer (NSCLC) clinical management. International guidelines suggest next-generation sequencing (NGS) as the preferred procedure, but other reverse transcriptase-polymerase chain reaction (RT-PCR)-...

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Bibliographic Details
Published in:Cancers 2022-12, Vol.15 (1), p.292
Main Authors: Leone, Alvaro, Muscarella, Lucia Anna, Graziano, Paolo, Tornese, Andrea, Grillo, Lucia Rosalba, Di Lorenzo, Angela, Bronzini, Monica, Scarpino, Stefania, Sparaneo, Angelo, Rossi, Giulio
Format: Article
Language:English
Subjects:
Automation
Biomarkers
Biopsy
Cancer
Carcinoma
Cloning
Diagnosis
Exocrine glands
Gene fusion
Genetic aspects
Genetic screening
Histology
Laboratories
Lung cancer, Non-small cell
Lymphatic system
Metastasis
Methods
Mutation
Next-generation sequencing
Non-small cell lung carcinoma
Parotid gland
Polymerase chain reaction
Proteins
RNA-directed DNA polymerase
Small cell lung carcinoma
Tumors
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Summary:A range of different techniques are available for predictive biomarker testing for non-small-cell lung cancer (NSCLC) clinical management. International guidelines suggest next-generation sequencing (NGS) as the preferred procedure, but other reverse transcriptase-polymerase chain reaction (RT-PCR)-based methods are rapidly evolving. In this study, we evaluated the reliability and accuracy of the Idylla GeneFusion assay, a rapid and fully automated platform able to simultaneously detect , , and and ex14 skipping mutations and compared its performance with routine reference methods. The cohort included thirty-seven NSCLCs plus two parotid gland carcinomas, previously characterized for the above alterations through either IHC, FISH, RT-PCR or NGS. In 36 of 39 cases, the Idylla GeneFusion assay and the reference methods were concordant (overall agreement: 92.3%). Tumor sections stored at room temperature for up to 60 days and 17 cases older than 2 years were successfully characterized. Our results suggest that the Idylla GeneFusion assay is a reliable tool to define gene fusion status and may be a valuable stand-alone diagnostic test when time efficiency is needed or NGS is not feasible.
ISSN:2072-6694
2072-6694
DOI:10.3390/cancers15010292