Cytology Smears in the Era of Molecular Biomarkers in Non-Small Cell Lung Cancer
Cytology Smears in the Era of Molecular Biomarkers in Non-Small Cell Lung Cancer
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DOI：
10.5858/arpa.2017-0208-ra
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发表时间：
2018-03-01
影响因子：
4.6
通讯作者：
de Andrea, Carlos E.
中科院分区：
文献类型：
--
作者：
Lozano, Maria D.;Echeveste, Jose I.;de Andrea, Carlos E.
背景-非小细胞肺癌(NSCLC)靶向治疗的快速进展使优化和实施用于分子检测的细胞学标本成为优先事项。高达70%的非小细胞肺癌患者被诊断为晚期，组织活检通常无法进行。尽管细胞学样本为分子检测提供了高质量的材料，但分子细胞病理学还没有广为人知或广泛使用。目的-报道分子细胞病理学的许多进展以及细胞学样本在非小细胞肺癌分子和基因检测中的适用性和实用性。数据来源-数据来源包括发表的同行评议的文献和作者的个人经验。结论-分子检测可以对细胞学标本进行，特别是直接涂片。细胞病理学家的快速现场评估改进了用于分子检测的细胞学样本的充分性和管理。使用下一代测序技术对非小细胞肺癌进行突变分析，可以从非常少量的DNA中提取细胞学样本。细胞学标本的荧光原位杂交分析，包括染色的直接涂片，与组织学标本相比具有一些明显的优势，并用于检测非小细胞肺癌中的ALK和ROS1重排。细胞学标本可以评估整个肿瘤细胞核，避免截断伪影造成的信号损失。目前正在开发利用细胞学样本评估程序性死亡配体-1蛋白表达的方法。亚硫酸氢盐转化和DNA液滴数字聚合酶链式反应分析的方案已经被优化用于细胞学涂片，以调查几个非小细胞肺癌相关基因的异常DNA甲基化。
Context.-The rapid advances in targeted therapies in non-small cell lung cancer (NSCLC) make the optimization and implementation of cytology specimens for molecular testing a priority. Up to 70% of patients with NSCLC are diagnosed at advanced stages and tissue biopsies often cannot be taken. Although cytology samples provide high-quality material for molecular testing, molecular cytopathology is not yet well known or widely used.Objective.-To report the many advances in molecular cytopathology and the suitability and utility of cytology samples in molecular and genetic testing of NSCLC.Data Sources.-Data sources comprised published peer-reviewed literature and personal experience of the authors.Conclusions.-Molecular testing can be performed on cytologic specimens, especially on direct smears. Rapid on-site evaluation by cytopathologists has improved the adequacy and the management of cytology samples for molecular testing. Mutational profiling of NSCLC using next-generation sequencing can be performed on cytology samples from very small amounts of DNA. Fluorescence in situ hybridization assays on cytology specimens, including stained direct smear, offer some distinct advantages over their histologic counterpart, and are used to detect ALK and ROS1 rearrangements in NSCLC. Cytology specimens allow assessment of the entire tumor cell nucleus, avoiding signal loss from truncation artifacts. The use of cytology samples for assessing programmed death ligand-1 protein expression is currently being developed. Protocols for bisulfite conversion and DNA droplet digital polymerase chain reaction assays have been optimized for cytology smear to investigate aberrant DNA methylation of several NSCLC-related genes.