Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations

Chu, Ying-Hsia; Barbee, Jada; Yang, Soo‐Ryum; Chang, Jason C.; Liang, Priscilla; Mullaney, Kerry; Chan, Roger; Salazar, Paulo; Benayed, Ryma; Offin, Michael; Drilon, Alexander; Ladanyi, Marc; Nafa, Khédoudja; Arcila, Maria E.

doi:10.1016/j.jmoldx.2022.03.006

Cited by 14 publications

(12 citation statements)

References 47 publications

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“…For the GeneFusion Assays, through this study and during our normal routine diagnostics, a high number of invalid results happen to appear for NTRK1/2/3 expression imbalance detection. This result also corresponds to a recent study by [ 26 ] Chu et al, 2022, in which they show that NTRK1/2/3 rearrangements had the lowest sensitivity with only 81% (22/27). In the future, these results need to be interpreted with caution for the RUO version of the Gene fusion assay.…”

Section: Discussionsupporting

confidence: 92%

Assessing and Evaluating the Scope and Constraints of Idylla Molecular Assays by Using Different Source Materials in Routine Diagnostic Settings

Boppudi

Scheil-Bertram

Faust

et al. 2022

IJMS

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For cancer treatment, diagnostics concerning tumor type and determination of molecular markers in short TAT is critical. The fully automated, real-time PCR-based molecular diagnostic Idylla assays are well established in many laboratories for qualitative detection, short TAT and routine screening of clinically relevant oncogenic mutations. According to the manufacturer, all IVD assays are recommended for use only with FFPE tissue samples of 5–10 µM dissections with at least 10% tumor content. In this study, we tested the performance and accuracy of the IVD assays along with the gene fusion assay (RUO) with different tissue/source materials like isolated DNA/RNA, cryomaterial, etc. The study also included testing archival FFPE tissue sections dating back from 20 years and a performance check for different pan-cancer samples individually. All the assays tested with FFPE sections and gDNA/RNA input showed above 96% accuracy and sensitivity, individually with 100% specificity. The Idylla assays also performed exceptionally well on the archival FFPE tissues, and the use of assays for other solid tumors was also remarkable. The performance test and accuracy of Idylla assays showed high efficiency with certain limitations. For the use of Idylla assays, both qualitative and quantitative applicability of different tumor source materials could produce efficient results in different diagnostic settings within a short TAT.

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Section: Discussionsupporting

confidence: 92%

Assessing and Evaluating the Scope and Constraints of Idylla Molecular Assays by Using Different Source Materials in Routine Diagnostic Settings

Boppudi

Scheil-Bertram

Faust

et al. 2022

IJMS

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“…Importantly, the assay was developed with a limited number of NTRK2 -rearranged specimens. 13 , 14 , 15 Furthermore, it has been recently reported that baseline tyrosine kinase gene expression differs among cancer types: (1) NTRK3 displayed higher expression in glioblastoma and colorectal cancer compared with other kinase receptors, such as ALK , ROS1 , RET , and NTRK1 ; and (2) NTRK2 had strong difference in baseline expression between adenocarcinoma and squamous cell carcinoma of the lung. 15 These factors could have affected the NTRK2 and NTRK3 EI method-calling algorithm.…”

Section: Discussionmentioning

confidence: 99%

“…The Idylla GeneFusion Assay (Biocartis, Mechelen, Belgium) is a rapid and automated cartridge-based system optimized for formalin-fixed, paraffin-embedded (FFPE) tumor tissue. 13 , 14 RNA extraction, amplification, multiplex quantitative reverse-transcriptase polymerase chain reaction (RT-qPCR), and data analysis are performed within a single cartridge-based workflow. It detects fusions by the following two methods: (1) fusion-specific (FS) detection and (2) expression imbalance (EI) analysis.…”

Section: Methodsmentioning

confidence: 99%

“…Beta testing reports of an ultrarapid gene fusion assay, using mainly prototype cartridges, revealed encouraging accuracy results. 13 , 14 , 15 In the current study, we evaluated the clinical utility of this recently commercially available assay, using the manufactured kits. We tested its performance of accuracy, tissue acceptance profile, and limit of detection for capturing clinically relevant gene fusions involving ALK , ROS1 , RET , NTRK1/2/3 genes, and MET exon 14 skipping alterations.…”

Section: Introductionmentioning

confidence: 99%

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

Buglioni¹,

Caffes²,

Hessler³

et al. 2022

JTO Clinical and Research Reports

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“…However, RNA NGS detection is generally limited to specific common fusion types causing rare fusions to be missed, and the sensitivity of RNA NGS is probably affected by the design of the detection product ( 47 ). The sensitivity and specificity reported in the literature can reach 88.46%-100% and 95.83%-100% ( 48 , 49 ). Other detection technologies such as NanoString technology/PCR/Sanger sequencing have a high cost, unpopular detection instruments, and time-consuming.…”

Section: Ret Fusion and Its Detectionmentioning

confidence: 91%

Targeted therapy of RET fusion-positive non-small cell lung cancer

Shen

Qiu

et al. 2022

Front. Oncol.

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Lung cancer has very high morbidity and mortality worldwide, and the prognosis is not optimistic. Previous treatments for non-small cell lung cancer (NSCLC) have limited efficacy, and targeted drugs for some gene mutations have been used in NSCLC with considerable efficacy. The RET proto-oncogene is located on the long arm of chromosome 10 with a length of 60,000 bp, and the expression of RET gene affects cell survival, proliferation, growth and differentiation. This review will describe the basic characteristics and common fusion methods of RET genes; analyze the advantages and disadvantages of different RET fusion detection methods; summarize and discuss the recent application of non-selective and selective RET fusion-positive inhibitors, such as Vandetanib, Selpercatinib, Pralsetinib and Alectinib; discuss the mechanism and coping strategies of resistance to RET fusion-positive inhibitors.

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Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations

Cited by 14 publications

References 47 publications

Assessing and Evaluating the Scope and Constraints of Idylla Molecular Assays by Using Different Source Materials in Routine Diagnostic Settings

Assessing and Evaluating the Scope and Constraints of Idylla Molecular Assays by Using Different Source Materials in Routine Diagnostic Settings

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

Targeted therapy of RET fusion-positive non-small cell lung cancer

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