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Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC

INTRODUCTION: Gene rearrangements are frequent oncologic drivers in NSCLC, and many are suitable for treatment with Food and Drug Administration–approved or experimental targeted therapies. We evaluated the accuracy, specimen acceptance profile, and limits of detection of a rapid fusion assay (Idyll...

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Autores principales: Buglioni, Alessia, Caffes, Patricia L., Hessler, Mark G., Mansfield, Aaron S., Lo, Ying-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758522/
https://www.ncbi.nlm.nih.gov/pubmed/36536899
http://dx.doi.org/10.1016/j.jtocrr.2022.100434
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author Buglioni, Alessia
Caffes, Patricia L.
Hessler, Mark G.
Mansfield, Aaron S.
Lo, Ying-Chun
author_facet Buglioni, Alessia
Caffes, Patricia L.
Hessler, Mark G.
Mansfield, Aaron S.
Lo, Ying-Chun
author_sort Buglioni, Alessia
collection PubMed
description INTRODUCTION: Gene rearrangements are frequent oncologic drivers in NSCLC, and many are suitable for treatment with Food and Drug Administration–approved or experimental targeted therapies. We evaluated the accuracy, specimen acceptance profile, and limits of detection of a rapid fusion assay (Idylla GeneFusion Assay), a commercially available ultrarapid molecular assay, for its clinical utility. METHODS: A collection of 97 specimens which had previously undergone next-generation sequencing testing were analyzed using the rapid fusion assay. Accuracy was evaluated by sensitivity and specificity compared with the next-generation sequencing results. The performance characteristics were tested by using a variety of different clinically relevant specimen types. Limits of detection were assessed by evaluating different input of tumor percentage and material amount. RESULTS: The rapid fusion assay was found to have 100% sensitivity in detecting fusions of ALK, ROS1, RET, NTRK1, and MET exon 14 skipping and 83% sensitivity for NTRK2/3 fusions. There were 100% specificity in detecting fusions of ROS1, RET, NTRK2/3, and MET exon 14 skipping and 98% specificity for ALK. Testing was successful with formalin-fixed paraffin-embedded biopsy and surgical tissues, cell blocks from fine-needle aspiration and pleural fluid (down to 5% tumor content, 18 mm(2) tissue scraped), cytology smears (≥300 cells), and previously extracted RNA (minimal 20 ng). CONCLUSIONS: The rapid fusion assay is quick, accurate, and versatile, allowing reliable detection of ALK, ROS1, RET fusions, and MET exon 14 skipping in NSCLC, and NTRK fusions. Rapid molecular testing may expedite treatment with appropriate targeted therapies.
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spelling pubmed-97585222022-12-18 Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC Buglioni, Alessia Caffes, Patricia L. Hessler, Mark G. Mansfield, Aaron S. Lo, Ying-Chun JTO Clin Res Rep Brief Report INTRODUCTION: Gene rearrangements are frequent oncologic drivers in NSCLC, and many are suitable for treatment with Food and Drug Administration–approved or experimental targeted therapies. We evaluated the accuracy, specimen acceptance profile, and limits of detection of a rapid fusion assay (Idylla GeneFusion Assay), a commercially available ultrarapid molecular assay, for its clinical utility. METHODS: A collection of 97 specimens which had previously undergone next-generation sequencing testing were analyzed using the rapid fusion assay. Accuracy was evaluated by sensitivity and specificity compared with the next-generation sequencing results. The performance characteristics were tested by using a variety of different clinically relevant specimen types. Limits of detection were assessed by evaluating different input of tumor percentage and material amount. RESULTS: The rapid fusion assay was found to have 100% sensitivity in detecting fusions of ALK, ROS1, RET, NTRK1, and MET exon 14 skipping and 83% sensitivity for NTRK2/3 fusions. There were 100% specificity in detecting fusions of ROS1, RET, NTRK2/3, and MET exon 14 skipping and 98% specificity for ALK. Testing was successful with formalin-fixed paraffin-embedded biopsy and surgical tissues, cell blocks from fine-needle aspiration and pleural fluid (down to 5% tumor content, 18 mm(2) tissue scraped), cytology smears (≥300 cells), and previously extracted RNA (minimal 20 ng). CONCLUSIONS: The rapid fusion assay is quick, accurate, and versatile, allowing reliable detection of ALK, ROS1, RET fusions, and MET exon 14 skipping in NSCLC, and NTRK fusions. Rapid molecular testing may expedite treatment with appropriate targeted therapies. Elsevier 2022-11-09 /pmc/articles/PMC9758522/ /pubmed/36536899 http://dx.doi.org/10.1016/j.jtocrr.2022.100434 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Brief Report
Buglioni, Alessia
Caffes, Patricia L.
Hessler, Mark G.
Mansfield, Aaron S.
Lo, Ying-Chun
Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title_full Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title_fullStr Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title_full_unstemmed Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title_short Clinical Utility Validation of an Automated Ultrarapid Gene Fusion Assay for NSCLC
title_sort clinical utility validation of an automated ultrarapid gene fusion assay for nsclc
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9758522/
https://www.ncbi.nlm.nih.gov/pubmed/36536899
http://dx.doi.org/10.1016/j.jtocrr.2022.100434
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