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

Anurag Mehta; Shrinidhi Nathany; Aanchal Chopra; Sakshi Mattoo; Dushyant Kumar; Manoj Kumar Panigrahi

doi:10.4132/jptm.2021.07.15

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저자정보: Anurag Mehta (Rajiv Gandhi Cancer Institute & Research Centre) Shrinidhi Nathany (Rajiv Gandhi Cancer Institute and Research Centre) Aanchal Chopra (Rajiv Gandhi Cancer Institute and Research Centre) Sakshi Mattoo (Rajiv Gandhi Cancer Institute and Research Centre) Dushyant Kumar (Rajiv Gandhi Cancer Institute and Research Centre) Manoj Kumar Panigrahi (Rajiv Gandhi Cancer Institute and Research Centre)

저널정보: 대한병리학회 Journal of Pathology and Translational Medicine Journal of Pathology and Translational Medicine 제55권 제5호

발행연도: 2021.9

수록면: 324 - 329 (6page)

DOI: 10.4132/jptm.2021.07.15

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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” (ΔMET14). 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 ΔMET14 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 ΔMET14 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 ΔMET14 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.

#MET exon 14 skipping #Lung neoplasms #Fragment sizing assay #Home brew #Electrophoresis

참고문헌 (15)

참고문헌 신청

Organ SL / 2011 / An overview of the c-MET signaling pathway / Ther Adv Med Oncol. 3(1 Suppl):S7~S19

Saffroy R / 2017 / MET exon 14 mutations as targets in routine molecular analysis of primary sarcomatoid carcinoma of the lung / Oncotarget 8:42428~42437

Tong JH / 2016 / MET amplification and exon 14 splice site mutation define unique molecular subgroups of nonsmall cell lung carcinoma with poor prognosis / Clin Cancer Res 22:3048~3056

Socinski MA / 2021 / MET exon 14 skipping mutations in non-small-cell lung cancer: an overview of biology, clinical outcomes, and testing considerations / JCO Precis Oncol 5:PO.20.0051

Chakravarty D / 2017 / OncoKB: a precision oncology knowledge base / JCO Precis Oncol. 2017:PO.17.0001

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Anurag Mehta

소속기관 Rajiv Gandhi Cancer Institute & Research Centre

주요연구분야 의약학 > 기초의학 > 병리학

논문수 4 이용수 1

Shrinidhi Nathany