Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.

IF 3.4 3区 医学 Q1 PATHOLOGY Virchows Archiv Pub Date : 2024-10-23 DOI:10.1007/s00428-024-03951-0
Yann Christinat, Baptiste Hamelin, Ilaria Alborelli, Paolo Angelino, Valérie Barbié, Bettina Bisig, Heather Dawson, Milo Frattini, Tobias Grob, Wolfram Jochum, Ronny Nienhold, Thomas McKee, Matthias Matter, Edoardo Missiaglia, Francesca Molinari, Sacha Rothschild, Anna Bettina Sobottka-Brillout, Erik Vassella, Martin Zoche, Kirsten D Mertz
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Abstract

Somatic variant testing through next-generation sequencing (NGS) is well integrated into Swiss molecular pathology laboratories and has become a standard diagnostic method for numerous indications in cancer patient care. Currently, there is a wide variation in reporting practices within our country, and as patients move between different hospitals, it is increasingly necessary to standardize NGS reports to ease their reinterpretation. Additionally, as many different stakeholders-oncologists, hematologists, geneticists, pathologists, and patients-have access to the NGS report, it needs to contain comprehensive and detailed information in order to answer the questions of experts and avoid misinterpretation by non-experts. In 2017, the Swiss Institute of Bioinformatics conducted a survey to assess the differences in NGS reporting practices across ten pathology institutes in Switzerland. The survey examined 68 reporting items and identified 48 discrepancies. Based on these findings, the Swiss Society of Molecular Pathology initiated a Delphi method to reach a consensus on a set of recommendations for NGS reporting. Reports should include clinical information about the patient and the diagnosis, technical details about the sample and the test performed, and a list of all clinically relevant variants and variants of uncertain significance. In the absence of a consensus on an actionability scheme, the five-class pathogenicity scheme proposed by the ACMG/AMP guideline must be included in the reports. The Swiss Society of Molecular Pathology recognizes the importance of including clinical actionability in the report and calls on the European community of molecular pathologists and oncologists to reach a consensus on this issue.

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在临床癌症治疗中报告体细胞变异:瑞士分子病理学学会的建议。
通过下一代测序(NGS)进行的体细胞变异检测已充分融入瑞士分子病理实验室,并已成为癌症患者治疗中许多适应症的标准诊断方法。目前,我国的报告实践存在很大差异,随着患者在不同医院之间流动,越来越有必要将 NGS 报告标准化,以方便患者重新解读。此外,由于许多不同的利益相关者--肿瘤学家、血液学家、遗传学家、病理学家和患者--都能获得 NGS 报告,因此报告需要包含全面而详细的信息,以回答专家的问题,避免非专业人士的误读。2017 年,瑞士生物信息学研究所开展了一项调查,以评估瑞士十家病理研究所在 NGS 报告实践方面的差异。调查研究了 68 个报告项目,发现了 48 项差异。基于这些发现,瑞士分子病理学学会启动了德尔菲法,以就 NGS 报告的一系列建议达成共识。报告应包括患者和诊断的临床信息、样本和所做检验的技术细节以及所有临床相关变异和意义不确定变异的列表。在未就可操作性方案达成共识的情况下,报告中必须包含 ACMG/AMP 指南提出的五级致病性方案。瑞士分子病理学会认识到将临床可操作性纳入报告的重要性,并呼吁欧洲分子病理学家和肿瘤学家团体就此问题达成共识。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Virchows Archiv
Virchows Archiv 医学-病理学
CiteScore
7.40
自引率
2.90%
发文量
204
审稿时长
4-8 weeks
期刊介绍: Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.
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