Utility of ancillary studies in the diagnosis and risk assessment of Barrett's esophagus and dysplasia.

Utility of ancillary studies in the diagnosis and risk assessment of Barrett's esophagus and dysplasia.
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DOI:
10.1038/s41379-022-01056-0
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发表时间:
2022-08
期刊:
影响因子:
7.5
通讯作者:
Montgomery, Elizabeth A.
Montgomery, Elizabeth A.
中科院分区:
医学1区
文献类型:
--
作者:
Choi, Won-Tak;Lauwers, Gregory Y.;Montgomery, Elizabeth A.

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Barrett食管(BE)是食管腺癌(EAC)发生的主要危险因素。BE患者接受定期内镜监测和活检以检测异型增生和EAC,但由于异型增生诊断和分级的采样误差和不一致性,这种策略是不完善的,这可能导致不准确的诊断或进展为EAC的风险评估。对更准确的诊断和更好的风险分层的需求促使研究和开发潜在的生物标志物,这些生物标志物可能有助于病理学家和临床医生管理BE患者,允许更积极的内镜监测和治疗选择针对高风险个体,同时避免对低风险人群进行频繁监测或不必要的干预。已知BE进展为异型增生和EAC伴随着许多遗传改变,并且这些标志物的探索可能对诊断/分级异型增生和/或对BE患者进行风险分层有用。几种生物标志物在识别早期肿瘤转化方面显示出希望,因此可能是组织学评价的有用指标。本文综述了一些目前可用的生物标志物和检测方法,包括p53免疫染色,广域经上皮采样与三维计算机辅助分析(WATS 3D),TissueCypher,突变负荷分析(BarreGen),荧光原位杂交,和DNA含量异常的DNA流式细胞术检测。
Barrett’s esophagus (BE) is a major risk factor for the development of esophageal adenocarcinoma (EAC). BE patients undergo periodic endoscopic surveillance with biopsies to detect dysplasia and EAC, but this strategy is imperfect owing to sampling error and inconsistencies in the diagnosis and grading of dysplasia, which may result in an inaccurate diagnosis or risk assessment for progression to EAC. The desire for more accurate diagnosis and better risk stratification has prompted the investigation and development of potential biomarkers that might assist pathologists and clinicians in the management of BE patients, allowing more aggressive endoscopic surveillance and treatment options to be targeted to high-risk individuals, while avoiding frequent surveillance or unnecessary interventions in those at lower risk. It is known that progression of BE to dysplasia and EAC is accompanied by a host of genetic alterations, and that exploration of these markers could be potentially useful to diagnose/grade dysplasia and/or to risk stratify BE patients. Several biomarkers have shown promise in identifying early neoplastic transformation and thus may be useful adjuncts to histologic evaluation. This review provides an overview of some of the currently available biomarkers and assays, including p53 immunostaining, Wide Area Transepithelial Sampling with Three-Dimensional Computer-Assisted Analysis (WATS3D), TissueCypher, mutational load analysis (BarreGen), fluorescence in situ hybridization, and DNA content abnormalities as detected by DNA flow cytometry.
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