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用于鉴定福尔马林固定石蜡包埋(FFPE)非小细胞肺癌(NSCLC)样本中MET外显子14跳跃的经济高效且易于操作的基于PCR的检测方法。

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.

作者信息

O'Brien Odharnaith, Wright Mark C, O'Brien Cathal, Geoghegan Orla, Leonard Niamh, Nicholson Siobhan, Cuffe Sinéad, Fabre Aurelie, Jochum Wolfram, Joerger Markus, Gray Steven G, Finn Stephen P

机构信息

Thoracic Oncology Research Group, Trinity Translational Medicine Institute, St. James's Hospital, D08 W9RT Dublin, Ireland.

Department of Histopathology, Labmed Directorate, St. James's Hospital, D08 RX0X Dublin, Ireland.

出版信息

Diagnostics (Basel). 2019 Jan 18;9(1):13. doi: 10.3390/diagnostics9010013.

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.

摘要

MET是一种受体酪氨酸激酶(RTK),在肿瘤发生过程中发挥重要作用。尽管其在癌症中经常过度表达,但针对该受体的临床反应一直有限。最近,涉及外显子14缺失的新型剪接突变(称为METex14跳跃)已成为预测非小细胞肺癌(NSCLC)中对Met抑制剂靶向治疗反应性的潜在生物标志物。目前,导致METex14跳跃的多种基因组改变给常规临床诊断检测带来了挑战。在本报告中,我们研究了三种检测METex14的不同方法,并评估了它们作为NSCLC中METex14鉴定和肿瘤内分布诊断检测方法的潜在效用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0c3/6468531/db2ad020e286/diagnostics-09-00013-g001.jpg

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