de Jager Vincent D, Giacomini Patrizio, Fairley Jennifer A, Toledo Rodrigo A, Patton Simon J, Joosse Simon A, Koch Claudia, Deans Zandra C, Pantel Klaus, Heitzer Ellen, Schuuring Ed
Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
UOSD Medicina di Precisione in Senologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Member of the European Liquid Biopsy Society (ELBS) ctDNA Working Group, Hamburg, Germany.
EBioMedicine. 2025 Apr;114:105636. doi: 10.1016/j.ebiom.2025.105636. Epub 2025 Mar 22.
The implementation of circulating tumor DNA (ctDNA) in the diagnostic routine may enable non-invasive predictive biomarker testing and treatment optimization in patients who lack a suitable tumor specimen, have failed previous molecular analysis or are clinically ineligible for (re-)biopsy procedures. As the interpretation and reporting are more complex for ctDNA than conventional tissue-based NGS, there is a need for specific guidelines. These will offer support for the reporting of ctDNA test results and will facilitate optimal communication of liquid biopsy findings between diagnostic laboratories and the medical oncology team. Aiming to generate guidelines based on real-world experiences and broad perspectives, we organized a European Liquid Biopsy Society (ELBS) ctDNA workshop, in which forty-four experts and key stakeholders from different molecular diagnostics laboratories, oncology and pathology departments, as well as an IVDR specialist, convened to address significant challenges associated with the reporting of liquid biopsy test results. This report delineates the resulting consensus recommendations for ctDNA test reporting with underlying rationale and background information.
在诊断流程中实施循环肿瘤DNA（ctDNA）检测，可能会实现对缺乏合适肿瘤标本、既往分子分析失败或临床上不适合（再次）活检的患者进行无创预测性生物标志物检测和治疗优化。由于ctDNA的解读和报告比传统基于组织的二代测序（NGS）更为复杂，因此需要特定的指南。这些指南将为ctDNA检测结果的报告提供支持，并促进诊断实验室与医学肿瘤学团队之间关于液体活检结果的最佳沟通。为了基于实际经验和广泛观点制定指南，我们组织了一场欧洲液体活检协会（ELBS）ctDNA研讨会，来自不同分子诊断实验室、肿瘤学和病理学部门的44位专家及关键利益相关者，以及一名体外诊断医疗器械法规（IVDR）专家齐聚一堂，共同应对与液体活检检测结果报告相关的重大挑战。本报告阐述了由此产生的关于ctDNA检测报告的共识性建议以及潜在的原理和背景信息。
