KMID : 1039420210550050324
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Journal of Pathology and Translational Medicine 2021 Volume.55 No. 5 p.324 ~ p.329
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Robust home brew fragment sizing assay for detection of MET exon 14 skipping mutation in non-small cell lung cancer patients in resource constrained community hospitals
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Mehta Anurag
Nathany Shrinidhi Chopra Aanchal Mattoo Sakshi Kumar Dushyant Panigrahi Manoj Kumar
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Abstract
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Background: A mutation/deletion involving donor or acceptor sites for exon 14 results in splicing out of exon 14 of the mesenchymal epithelial transition (MET) gene and is known as ¡°MET exon 14 skipping¡± (¥ÄMET14). The two recent approvals with substantial objective responses and improved progression-free survival to MET inhibitors namely capmatinib and tepotinib necessitate the identification of this alteration upfront. We herein describe our experience of ¥ÄMET14 detection by an mRNA-based assay using polymerase chain reaction followed by fragment sizing.
Methods: This is a home brew assay which was developed with the concept that the transcripts from true ¥ÄMET14 will be shorter by ~140 bases than their wild type counterparts. The cases which were called MET exon 14 skipping positive on next-generation sequencing (NGS) were subjected to this assay, along with 13 healthy controls in order to establish the validity for true negatives.
Results: Thirteen cases of ¥ÄMET14 mutation were detected on NGS using RNA-based sequencing. Considering NGS as a gold standard, the sizing assay using both gel and capillary electrophoresis that showed 100% specificity for both with concordance rates of 84.6% and 88.2% with NGS, respectively, were obtained.
Conclusions: Owing to the cost-effective nature and easy to use procedures, this assay will prove beneficial for small- and medium-sized laboratories where skilled technical personnel and NGS platforms are unavailable.
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KEYWORD
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MET exon 14 skipping, Lung neoplasms, Fragment sizing assay, Home brew, Electrophoresis
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