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细胞病理学和小活检样本在辅助性分子检测中的应用。

The utilization of cytologic and small biopsy samples for ancillary molecular testing.

机构信息

Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, United States.

出版信息

Mod Pathol. 2019 Jan;32(Suppl 1):77-85. doi: 10.1038/s41379-018-0138-z. Epub 2019 Jan 2.

Abstract

There has recently been an increased emphasis on the utilization of cytologic samples and small biopsies for not only diagnostic purposes but also for ancillary testing. In some instances, the ancillary tests contribute to the diagnosis and in other scenarios, they provide prognostic and theranostic information for the management of patients with advanced stage cancer. These ancillary tests include immunohistochemical biomarker analysis, molecular mutation analysis, and cytogenetic tests. Despite the finite nature of the cellular material procured in cytologic and small tissue biopsies, pathologists are tasked with ordering an increasing number of tests using these limited samples. This requires the pathologists to utilize and triage these samples in an optimal fashion so that as much information can be gleaned from a given specimen. This review will focus on the pre-analytic requirements for ancillary molecular and cytogenetic tests in the context of a discussion of the various preparation methods for cytologic and small biopsy specimens. The goal will be to provide the reader with the necessary concepts that can be utilized to develop optimal specimen selection and triage strategies to maximize the chances of effectively utilizing these samples for comprehensive diagnostic and relevant ancillary testing purposes.

摘要

近年来,人们越来越重视细胞学样本和小组织活检的应用,不仅用于诊断目的,也用于辅助检测。在某些情况下,辅助检测有助于诊断,而在其他情况下,它们为晚期癌症患者的管理提供预后和治疗相关信息。这些辅助检测包括免疫组织化学生物标志物分析、分子突变分析和细胞遗传学检测。尽管细胞学和小组织活检中获得的细胞材料是有限的,但病理学家的任务是使用这些有限的样本来订购越来越多的检测。这要求病理学家以最佳方式使用和分类这些样本,以便从给定的标本中获取尽可能多的信息。本文将重点讨论辅助分子和细胞遗传学检测的分析前要求,并讨论细胞学和小组织活检标本的各种制备方法。目的是为读者提供必要的概念,以制定最佳的标本选择和分类策略,最大限度地提高有效利用这些样本进行全面诊断和相关辅助检测的机会。

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