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Lancet Reg Health Eur. 2024 Mar 1;38:100839. doi: 10.1016/j.lanepe.2024.100839. eCollection 2024 Mar.
2
COSMIC: a curated database of somatic variants and clinical data for cancer.COSMIC:一个针对癌症体细胞变异和临床数据的精选数据库。
Nucleic Acids Res. 2024 Jan 5;52(D1):D1210-D1217. doi: 10.1093/nar/gkad986.
3
Standardized and simplified reporting of next-generation sequencing results in advanced non-small-cell lung cancer: Practical indications from an Italian multidisciplinary group.晚期非小细胞肺癌中下一代测序结果的标准化和简化报告:来自意大利多学科小组的实际指示。
Crit Rev Oncol Hematol. 2024 Jan;193:104217. doi: 10.1016/j.critrevonc.2023.104217. Epub 2023 Nov 30.
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Molecular diagnostics tailoring personalized cancer therapy-an oncologist's view.分子诊断定制个体化癌症治疗——肿瘤学家的观点。
Virchows Arch. 2024 Feb;484(2):169-179. doi: 10.1007/s00428-023-03702-7. Epub 2023 Nov 20.
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Next-Generation Sequencing Technology: Current Trends and Advancements.下一代测序技术:当前趋势与进展
Biology (Basel). 2023 Jul 13;12(7):997. doi: 10.3390/biology12070997.
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G12C mutation: from undruggable target to potentially agnostic biomarker.G12C突变:从不可成药靶点到潜在的通用生物标志物。
Transl Lung Cancer Res. 2023 Jun 30;12(6):1147-1151. doi: 10.21037/tlcr-23-174. Epub 2023 May 23.
7
The ideal reporting of testing in colorectal adenocarcinoma: a pathologists' perspective.结直肠癌检测的理想报告:病理学家的观点。
Pathologica. 2023 Jun 14;115(3):137-47. doi: 10.32074/1591-951X-895.
8
Human resources for administrative work to carry out a comprehensive genomic profiling test in Japan.在日本开展行政工作的人力资源进行全面基因组分析测试。
Cancer Sci. 2023 Jul;114(7):3041-3049. doi: 10.1111/cas.15833. Epub 2023 May 10.
9
Assessments of Somatic Variant Classification Using the Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists Guidelines: A Report from the Association for Molecular Pathology.使用分子病理学协会/美国临床肿瘤学会/美国病理学家学会指南进行体细胞变异分类评估:分子病理学协会报告
J Mol Diagn. 2023 Feb;25(2):69-86. doi: 10.1016/j.jmoldx.2022.11.002. Epub 2022 Dec 9.
10
How to read a next-generation sequencing report-what oncologists need to know.如何解读下一代测序报告——肿瘤医生需要了解的内容
ESMO Open. 2022 Oct;7(5):100570. doi: 10.1016/j.esmoop.2022.100570. Epub 2022 Sep 29.

临床癌症护理中体细胞变异的报告:瑞士分子病理学会的建议

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

作者信息

Christinat Yann, Hamelin Baptiste, Alborelli Ilaria, Angelino Paolo, Barbié Valérie, Bisig Bettina, Dawson Heather, Frattini Milo, Grob Tobias, Jochum Wolfram, Nienhold Ronny, McKee Thomas, Matter Matthias, Missiaglia Edoardo, Molinari Francesca, Rothschild Sacha, Sobottka-Brillout Anna Bettina, Vassella Erik, Zoche Martin, Mertz Kirsten D

机构信息

Clinical Pathology Division, Geneva University Hospitals, Geneva, Switzerland.

Institute of Medical Genetics and Pathology, Universitätsspital Basel, Basel, Switzerland.

出版信息

Virchows Arch. 2024 Dec;485(6):1033-1039. doi: 10.1007/s00428-024-03951-0. Epub 2024 Oct 23.

DOI:10.1007/s00428-024-03951-0
PMID:39443383
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11666653/
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.

摘要

通过下一代测序(NGS)进行的体细胞变异检测已很好地融入瑞士分子病理学实验室,并已成为癌症患者护理中众多适应症的标准诊断方法。目前,我国报告实践存在很大差异,随着患者在不同医院之间转诊,越来越有必要规范NGS报告,以便于重新解读。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——都可以获取NGS报告,报告需要包含全面而详细的信息,以回答专家的问题并避免非专家的误解。2017年,瑞士生物信息学研究所进行了一项调查,以评估瑞士十个病理研究所NGS报告实践的差异。该调查检查了68个报告项目,发现了48个差异。基于这些发现,瑞士分子病理学会启动了德尔菲法,就一套NGS报告建议达成共识。报告应包括患者的临床信息和诊断、样本及所进行检测的技术细节,以及所有临床相关变异和意义未明变异的列表。在缺乏关于可操作性方案共识的情况下,报告必须包括美国医学遗传学与基因组学学会/分子病理学协会(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在报告中纳入临床可操作性的重要性,并呼吁欧洲分子病理学家和肿瘤学家群体就此问题达成共识。