Department of Biopathology, CLCC UNICANCER Léon Bérard, Lyon, France.
Anatomopathology Research Platform and Team Genetics, Epigenetics and Biology of Sarcomas, INSERM 1052, CNRS 5286 of Cancer Research Center of Lyon, Université Claude Bernard Lyon 1, Lyon, France.
Expert Rev Mol Diagn. 2023 Jul-Dec;23(12):1283-1291. doi: 10.1080/14737159.2023.2277367. Epub 2023 Dec 15.
, and rearrangements occur, respectively, in 5%, 2%, and 1% non-small cell lung cancers (NSCLC). ALK and ROS1 fusion proteins detection by immunohistochemistry (IHC) has been validated for rapid patient screening, but fusions need to be confirmed by another technique and no RET IHC test is available for clinical use.
We report herein the usefulness of the HTG EdgeSeq Assay, an RNA extraction-free test combining a quantitative nuclease protection assay with NGS, for the detection of , and fusions from 'real-life' small NSCLC samples. A total of 203 FFPE samples were collected from 11 centers. They included 143 rearranged NSCLC (87 , 39 , 17 ) and 60 -- negative controls.
The assay had a specificity of 98% and a sensitivity for , and fusions of 80%, 94% and 100% respectively. Among the 19 HTG-assay false negative samples, the preanalytical conditions were identified as the major factors impacting the assay efficiency.
Overall, the HTG EdgeSeq assay offers comparable sensitivities and specificity than other RNA sequencing techniques, with the advantage that it can be used on very small and old samples collected multicentrically.
在非小细胞肺癌（NSCLC）中，分别有 5%、2%和 1%发生 、 和 重排。免疫组织化学（IHC）检测 ALK 和 ROS1 融合蛋白已被验证可用于快速筛选患者，但融合需要通过另一种技术确认，并且没有用于临床的 RET IHC 检测。
我们在此报告了 HTG EdgeSeq 检测的实用性，该检测是一种无 RNA 提取的测试，结合了定量核酸酶保护检测和 NGS，用于检测“真实生活”小细胞 NSCLC 样本中的 、 和 融合。共从 11 个中心收集了 203 个 FFPE 样本。它们包括 143 个重排 NSCLC（87 个 、39 个 、17 个 ）和 60 个 -- 阴性对照。
该检测具有 98%的特异性和 80%、94%和 100%的灵敏度，用于检测 、 和 融合。在 19 个 HTG 检测假阴性样本中，分析前条件被确定为影响检测效率的主要因素。
总体而言，HTG EdgeSeq 检测与其他 RNA 测序技术具有相当的灵敏度和特异性，其优势在于可以用于多中心收集的非常小和陈旧的样本。
