Liquid Biopsy Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington; Brotman Baty Institute for Precision Medicine, Seattle, Washington.
Liquid Biopsy Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
J Mol Diagn. 2023 Dec;25(12):876-897. doi: 10.1016/j.jmoldx.2023.09.004. Epub 2023 Oct 6.
Diagnosing, selecting therapy for, and monitoring cancer in patients using a minimally invasive blood test represents a significant advance in precision medicine. Wide variability exists in how circulating tumor DNA (ctDNA) assays are developed, validated, and reported in the literature, which hinders clinical adoption and may negatively impact patient care. Standardization is needed for factors affecting ctDNA assay performance and reporting, including pre-analytical variables, analytical considerations, and elements of laboratory assay reporting. The Association for Molecular Pathology Clinical Practice Committee's Liquid Biopsy Working Group (LBxWG), including organizational representation from the American Society of Clinical Oncology and the College of American Pathologists, has undertaken a full-text data extraction of 1228 ctDNA publications that describe assays performed in patients with lymphoma and solid tumor malignancies. With an emphasis on clinical assay validation, the LBxWG has developed a set of 13 best practice consensus recommendations for validating, reporting, and publishing clinical ctDNA assays. Recommendations include reporting key pre-analytical considerations and assay performance metrics; this analysis demonstrates these elements are inconsistently included in publications. The LBxWG recommendations are intended to assist clinical laboratories with validating and reporting ctDNA assays and to ensure high-quality data are included in publications. It is expected that these recommendations will need to be updated as the body of literature continues to mature.
使用微创血液检测来诊断、选择癌症治疗方案并监测癌症患者，代表了精准医学的重大进展。在循环肿瘤 DNA（ctDNA）检测的开发、验证和文献报告方面存在广泛的差异，这阻碍了临床应用，并可能对患者护理产生负面影响。需要对影响 ctDNA 检测性能和报告的因素进行标准化，包括分析前变量、分析注意事项以及实验室检测报告的要素。分子病理学协会临床实践委员会的液体活检工作组（LBxWG），包括美国临床肿瘤学会和美国病理学家协会的组织代表，已经对描述在淋巴瘤和实体瘤恶性肿瘤患者中进行的检测的 1228 篇 ctDNA 文献进行了全文数据提取。LBxWG 强调临床检测验证，制定了一套 13 项最佳实践共识建议，用于验证、报告和发布临床 ctDNA 检测。建议包括报告关键的分析前注意事项和检测性能指标；这项分析表明，这些要素在出版物中不一致地包含。LBxWG 的建议旨在帮助临床实验室验证和报告 ctDNA 检测，并确保高质量的数据包含在出版物中。预计随着文献的不断成熟，这些建议将需要更新。
