{"title":"Next step of molecular pathology: next-generation sequencing in cytology.","authors":"Ricella Souza da Silva, Fernando Schmitt","doi":"10.4132/jptm.2024.10.22","DOIUrl":null,"url":null,"abstract":"<p><p>The evolving landscape of precision oncology underscores the pivotal shift from morphological diagnosis to treatment decisions driven by molecular profiling. Recent guidelines from the European Society for Medical Oncology recomend the use of next-generation sequencing (NGS) across a broader range of cancers, reflecting its superior efficiency and clinical value. NGS not only updates oncology testing by offering quicker, sample-friendly, and sensitive analysis but also reduces the need for multiple individual tests. Cytology samples, often obtained through less invasive methods, can yield high-quality genetic material suitable for molecular analysis. This article focuses on optimizing the use of cytology samples in NGS, and outlines their potential benefits in identifying actionable molecular alterations for targeted therapies across various solid tumors. It also addresses the need for validation studies and the strategies to incorporate or combine different types of samples into routine clinical practice. Integrating cytological and liquid biopsies into routine clinical practice, alongside conventional tissue biopsies, offers a comprehensive approach to tumor genotyping, early disease detection, and monitoring of therapeutic responses across various solid tumor types. For comprehensive biomarker characterization, all patient specimens, although limited, is always valuable.</p>","PeriodicalId":46933,"journal":{"name":"Journal of Pathology and Translational Medicine","volume":"58 6","pages":"291-298"},"PeriodicalIF":1.7000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11573480/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pathology and Translational Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4132/jptm.2024.10.22","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/11/7 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
The evolving landscape of precision oncology underscores the pivotal shift from morphological diagnosis to treatment decisions driven by molecular profiling. Recent guidelines from the European Society for Medical Oncology recomend the use of next-generation sequencing (NGS) across a broader range of cancers, reflecting its superior efficiency and clinical value. NGS not only updates oncology testing by offering quicker, sample-friendly, and sensitive analysis but also reduces the need for multiple individual tests. Cytology samples, often obtained through less invasive methods, can yield high-quality genetic material suitable for molecular analysis. This article focuses on optimizing the use of cytology samples in NGS, and outlines their potential benefits in identifying actionable molecular alterations for targeted therapies across various solid tumors. It also addresses the need for validation studies and the strategies to incorporate or combine different types of samples into routine clinical practice. Integrating cytological and liquid biopsies into routine clinical practice, alongside conventional tissue biopsies, offers a comprehensive approach to tumor genotyping, early disease detection, and monitoring of therapeutic responses across various solid tumor types. For comprehensive biomarker characterization, all patient specimens, although limited, is always valuable.
不断发展的精准肿瘤学凸显了从形态学诊断到由分子图谱驱动的治疗决策的关键转变。欧洲肿瘤内科学会(European Society for Medical Oncology)的最新指南建议在更广泛的癌症中使用下一代测序技术(NGS),这反映了其卓越的效率和临床价值。NGS 不仅能更新肿瘤检测,提供更快速、样本友好和灵敏的分析,还能减少对多种单独检测的需求。细胞学样本通常通过侵入性较小的方法获得,可产生适合分子分析的高质量遗传物质。本文重点介绍如何优化细胞学样本在 NGS 中的应用,并概述了细胞学样本在确定各种实体瘤靶向治疗的可操作分子改变方面的潜在优势。报告还探讨了验证研究的必要性以及将不同类型样本纳入或结合到常规临床实践中的策略。将细胞学活检和液体活检与传统的组织活检一起纳入常规临床实践,为肿瘤基因分型、早期疾病检测和监测各种实体瘤类型的治疗反应提供了一种全面的方法。要进行全面的生物标记表征,所有患者标本尽管数量有限,但始终是有价值的。
期刊介绍:
The Journal of Pathology and Translational Medicine is an open venue for the rapid publication of major achievements in various fields of pathology, cytopathology, and biomedical and translational research. The Journal aims to share new insights into the molecular and cellular mechanisms of human diseases and to report major advances in both experimental and clinical medicine, with a particular emphasis on translational research. The investigations of human cells and tissues using high-dimensional biology techniques such as genomics and proteomics will be given a high priority. Articles on stem cell biology are also welcome. The categories of manuscript include original articles, review and perspective articles, case studies, brief case reports, and letters to the editor.