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Article Dans Une Revue JTO Clinical and Research Reports Année : 2022

Ultrafast Gene Fusion Assessment for Nonsquamous NSCLC

Simon Heeke
  • Fonction : Auteur
Lara Chalabreysse
  • Fonction : Auteur
Marc Barritault
  • Fonction : Auteur
Pierre Paul Bringuier
  • Fonction : Auteur
Tanguy Fenouil
Hugues Begueret
  • Fonction : Auteur
Jean Philippe Merlio
  • Fonction : Auteur
Charline Caumont
  • Fonction : Auteur
Solène Evrard
  • Fonction : Auteur
Charlotte Syrykh
  • Fonction : Auteur
Anna Vigier
  • Fonction : Auteur
Pierre Brousset
  • Fonction : Auteur
Julien Mazieres
  • Fonction : Auteur
Elodie Long-Mira
  • Fonction : Auteur
Jonathan Benzaquen
  • Fonction : Auteur
Maryline Allegra
  • Fonction : Auteur
Virginie Tanga
  • Fonction : Auteur
Virginie Lespinet-Fabre
  • Fonction : Auteur
Myriam Salah
  • Fonction : Auteur
Christelle Bonnetaud
  • Fonction : Auteur
Olivier Bordone
  • Fonction : Auteur
Sandra Lassalle
  • Fonction : Auteur

Résumé

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.
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Dates et versions

hal-04490508 , version 1 (05-03-2024)

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Véronique Hofman, Simon Heeke, Christophe Bontoux, Lara Chalabreysse, Marc Barritault, et al.. Ultrafast Gene Fusion Assessment for Nonsquamous NSCLC. JTO Clinical and Research Reports, 2022, 4 (2), pp.100457. ⟨10.1016/j.jtocrr.2022.100457⟩. ⟨hal-04490508⟩
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