Ultrafast Gene Fusion Assessment for Nonsquamous NSCLC
- Creators
- Hofman, Véronique
- Heeke, Simon
- Bontoux, Christophe
- Chalabreysse, Lara
- Barritault, Marc
- Bringuier, Pierre
- Fenouil, Tanguy
- Benzerdjeb, Nazim
- Begueret, Hugues
- Merlio, Jean
- Caumont, Charline
- Piton, Nicolas
- Sabourin, Jean-Christophe
- Evrard, Solène
- Syrykh, Charlotte
- Vigier, Anna
- Brousset, Pierre
- Mazieres, Julien
- Long-Mira, Elodie
- Benzaquen, Jonathan
- Boutros, Jacques
- Allegra, Maryline
- Tanga, Virginie
- Lespinet-Fabre, Virginie
- Salah, Myriam
- Bonnetaud, Christelle
- Bordone, Olivier
- Lassalle, Sandra
- Marquette, Charles-Hugo
- Ilié, Marius
- Hofman, Paul
- Others:
- Institut de Recherche sur le Cancer et le Vieillissement (IRCAN) ; Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA)
- Hospices Civils de Lyon (HCL)
- Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL) ; Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL) ; Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
- Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND) ; Université de Rouen Normandie (UNIROUEN) ; Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Description
Introduction: Gene fusion testing of ALK, ROS1, RET, NTRK, and MET exon 14 skipping mutations is guideline recommended in nonsquamous NSCLC (NS-NSCLC). Nevertheless, assessment is often hindered by the limited availability of tissue and prolonged next-generation sequencing (NGS) testing, which can protract the initiation of a targeted therapy. Therefore, the development of faster gene fusion assessment is critical for optimal clinical decision-making. Here, we compared two ultrafast gene fusion assays (UFGFAs) using NGS (Genexus, Oncomine Precision Assay, Thermo Fisher Scientific) and a multiplex reverse-transcriptase polymerase chain reaction (Idylla, GeneFusion Assay, Biocartis) approach at diagnosis in a retrospective series of 195 NS-NSCLC cases and five extrapulmonary tumors with a known NTRK fusion.Methods: A total of 195 NS-NSCLC cases (113 known gene fusions and 82 wild-type tumors) were included retrospectively. To validate the detection of a NTRK fusion, we added five NTRK-positive extrathoracic tumors. The diagnostic performance of the two UFGFAs and standard procedures was compared.Results: The accuracy was 92.3% and 93.1% for Idylla and Genexus, respectively. Both systems improved the sensitivity for detection by including a 5′-3′ imbalance analysis. Although detection of ROS1, MET exon 14 skipping, and RET was excellent with both systems, ALK fusion detection was reduced with sensitivities of 87% and 88%, respectively. Idylla had a limited sensitivity of 67% for NTRK fusions, in which only an imbalance assessment was used.Conclusions: UFGFA using NGS and reverse-transcriptase polymerase chain reaction approaches had an equal level of detection of gene fusion but with some technique-specific limitations. Nevertheless, UFGFA detection in routine clinical care is feasible with both systems allowing faster initiation of therapy and a broad degree of screening.
Abstract
International audience
Additional details
- URL
- https://hal.science/hal-04490508
- URN
- urn:oai:HAL:hal-04490508v1
- Origin repository
- UNICA