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Diagnostics 2019, 9(1), 13; https://doi.org/10.3390/diagnostics9010013

Cost-Efficient and Easy to Perform PCR-Based Assay to Identify Met Exon 14 Skipping in Formalin-Fixed Paraffin-Embedded (FFPE) Non-Small Cell Lung Cancer (NSCLC) Samples

1
Thoracic Oncology Research Group, Trinity Translational Medicine Institute, St. James’s Hospital, D08 W9RT Dublin, Ireland
2
Department of Histopathology, Labmed Directorate, St. James’s Hospital, D08 RX0X Dublin, Ireland
3
Cancer Molecular Diagnostics, Labmed Directorate, St. James’s Hospital, D08 RX0X Dublin, Ireland
4
HOPE Directorate, St. James’s Hospital, D08 RT2X Dublin, Ireland
5
Department of Pathology, St. Vincent’s University Hospital, University College Dublin School of Medicine, D04 T6F4 Dublin, Ireland
6
Department of Pathology, Cantonal Hospital, 9007 St. Gallen, Switzerland
7
Department of Medical Oncology & Hematology, Cantonal Hospital, 9007 St. Gallen, Switzerland
8
Department of Clinical Medicine, Trinity College Dublin, D02 PN40 Dublin, Ireland
9
School of Biological Sciences, Dublin Institute of Technology, D08 NF82 Dublin, Ireland
10
Department of Histopathology and Morbid Anatomy, Trinity College Dublin, D08 X4RX Dublin, Ireland
*
Author to whom correspondence should be addressed.
Received: 23 November 2018 / Revised: 10 January 2019 / Accepted: 14 January 2019 / Published: 18 January 2019
(This article belongs to the Section Novel Diagnostic Technologies and Devices)
Full-Text   |   PDF [1984 KB, uploaded 18 January 2019]   |  

Abstract

MET is a receptor tyrosine kinase (RTK) that plays important roles in carcinogenesis. Despite being frequently overexpressed in cancer, clinical responses to targeting this receptor have been limited. Recently novel splicing mutations involving the loss of exon 14 (called METex14 skipping) have emerged as potential biomarkers to predict for responsiveness to targeted therapies with Met inhibitors in non-small cell lung cancer (NSCLC). Currently, the diverse genomic alterations responsible for METex14 skipping pose a challenge for routine clinical diagnostic testing. In this report, we examine three different methodologies to detect METex14 and assess their potential utility for use as a diagnostic assay for both the identification of METex14 and intra-tumoural distribution in NSCLC. View Full-Text
Keywords: Met exon 14 skipping; diagnostic assay; PCR; next generation sequencing; RNA hybridisation Met exon 14 skipping; diagnostic assay; PCR; next generation sequencing; RNA hybridisation
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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O’Brien, O.; Wright, M.C.; O’Brien, C.; Geoghegan, O.; Leonard, N.; Nicholson, S.; Cuffe, S.; Fabre, A.; Jochum, W.; Joerger, M.; Gray, S.G.; Finn, S.P. Cost-Efficient and Easy to Perform PCR-Based Assay to Identify Met Exon 14 Skipping in Formalin-Fixed Paraffin-Embedded (FFPE) Non-Small Cell Lung Cancer (NSCLC) Samples. Diagnostics 2019, 9, 13.

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