FISH 仍是监测乳腺癌的重要工具:最新文献、替代方法和拟议技术综述。

Isaak Heon, Alexandra Chu, Jeff Chen, William A Wyatt, Carlos A Tirado
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摘要

目的:几十年来,荧光原位杂交一直是检测人类表皮生长因子受体 2(HER2)过表达的权威方法,用于指导癌症患者的适当治疗。近年来,创新技术和新技术的发展取代了 FISH,甚至取而代之成为生物标记物检测的标准方法。聚合酶链反应(PCR)、下一代测序(NGS)等替代检测方法以及色原-ISH(CISH)等其他原位杂交(ISH)衍生技术已在多篇论文中被证明与 FISH 具有高度一致性,而且在经济、物流和实用性方面也具有优势,以至于 CISH 及其衍生方法似乎已取代 FISH 成为继免疫组化(IHC)之后的又一种检测方法。本综述评估了 FISH 与其他诊断技术(如 IHC、CISH 以及不常用和/或实验方法)相比的地位。此外,我们还讨论了美国临床肿瘤学会(ASCO)、美国病理学家学会(CAP)和美国国立综合癌症网络(NCCN)关于 FISH 和 IHC 检测 HER2 的指南更新情况,更新后的指南减少了最新版本中诊断不明确的病例数量。尽管我们的研究结果表明技术在不断变化,但 FISH 仍是指导医疗的重要主要工具,也是癌症研究创新的坚实基础。
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FISH Still a Very Important Tool to Monitor Breast Cancer: Review of Recent Literature, Alternative Methods, and Proposed Techniques.

Objectives: Fluorescent in situ hybridization has been the definitive modality in testing for overexpression of the Human Epidermal Growth Factor Receptor 2 (HER2) for decades to guide the appropriate treatment for cancer patients. In more recent years innovation and new techniques have been developed to supplant or even replace FISH as a standard method for biomarker testing. Alternative testing methods such polymerase chain reaction (PCR), next-generation sequencing (NGS), and other in situ hybridization (ISH)-derived techniques such as chromogenic-ISH (CISH) have been shown in multiple publications to have high concordance with FISH in addition to advantages in economics, logistics and practicality to the point where CISH and derived methods appear to have eclipsed FISH as a testing method of choice after immunohistochemistry (IHC). This review assesses the status of FISH compared to other diagnostic techniques such as IHC, CISH, and less common and/or experimental methods. Also addressed are the updates to the guidelines from the American Society of Clinical Oncology (ASCO), College of American Pathologists (CAP), and National Comprehensive Cancer Network (NCCN) regarding FISH and IHC for HER2 testing with the updates reducing the number of equivocal diagnoses in the latest iteration. Though our findings show a constantly changing technological landscape, FISH remains an important primary tool to guide medical treatment and as a solid foundation to build upon for innovation in cancer research.

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