Dubbink Hendrikus J, Deans Zandra C, Tops Bastiaan B J, van Kemenade Folkert J, Koljenović S, van Krieken Han J M, Blokx Willeke A M, Dinjens Winand N M, Groenen Patricia J T A
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, The Royal Infirmary of Edinburgh, Edinburgh, United Kingdom.
Mol Oncol. 2014 Jun;8(4):830-9. doi: 10.1016/j.molonc.2014.03.004. Epub 2014 Mar 18.
Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe.
病理学中的肿瘤评估越来越依赖于传统组织病理学与分子分析的结合。由于专门针对肿瘤细胞中异常蛋白的新型癌症治疗方法迅速发展，治疗决策越来越基于肿瘤的分子特征。不仅符合靶向精准医学的患者数量在增加，而且每位患者和肿瘤类型的分子靶点数量也在上升。诊断分子病理学这一学科，旨在确定肿瘤中存在的分子异常以用于诊断、预后或预测目的，正面临着真正的挑战。实验室必须在短时间内，仅使用有限量的肿瘤组织（大多为福尔马林固定、石蜡包埋的FFPE组织）满足全面分子检测的需求。必须选择能提供准确、可靠且具有成本效益结果的分析方法。测试程序和结果的验证至关重要。此外，参与内部质量控制（IQA）和外部质量保证（EQA）计划并表现良好是强制性的。在本综述中，我们批判性地评估了全面分子检测的验证程序，以及欧洲范围内诊断分子病理实验室的质量保证组织和能力评估。
