Cree Ian A, Deans Zandra, Ligtenberg Marjolijn J L, Normanno Nicola, Edsjö Anders, Rouleau Etienne, Solé Francesc, Thunnissen Erik, Timens Wim, Schuuring Ed, Dequeker Elisabeth, Murray Samuel, Dietel Manfred, Groenen Patricia, Van Krieken J Han
Warwick Medical School, University Hospital Coventry and Warwickshire, Coventry, UK Institute of Ophthalmology, University College London, London, UK.
UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK.
J Clin Pathol. 2014 Nov;67(11):923-31. doi: 10.1136/jclinpath-2014-202404. Epub 2014 Jul 10.
Molecular testing is becoming an important part of the diagnosis of any patient with cancer. The challenge to laboratories is to meet this need, using reliable methods and processes to ensure that patients receive a timely and accurate report on which their treatment will be based. The aim of this paper is to provide minimum requirements for the management of molecular pathology laboratories. This general guidance should be augmented by the specific guidance available for different tumour types and tests. Preanalytical considerations are important, and careful consideration of the way in which specimens are obtained and reach the laboratory is necessary. Sample receipt and handling follow standard operating procedures, but some alterations may be necessary if molecular testing is to be performed, for instance to control tissue fixation. DNA and RNA extraction can be standardised and should be checked for quality and quantity of output on a regular basis. The choice of analytical method(s) depends on clinical requirements, desired turnaround time, and expertise available. Internal quality control, regular internal audit of the whole testing process, laboratory accreditation, and continual participation in external quality assessment schemes are prerequisites for delivery of a reliable service. A molecular pathology report should accurately convey the information the clinician needs to treat the patient with sufficient information to allow for correct interpretation of the result. Molecular pathology is developing rapidly, and further detailed evidence-based recommendations are required for many of the topics covered here.
分子检测正成为任何癌症患者诊断的重要组成部分。实验室面临的挑战是满足这一需求，采用可靠的方法和流程，以确保患者能及时获得准确的报告，而治疗将基于这份报告。本文旨在提供分子病理实验室管理的最低要求。这份一般性指南应辅以针对不同肿瘤类型和检测的具体指南。分析前的考量很重要，必须仔细考虑样本获取和送达实验室的方式。样本接收和处理遵循标准操作规程，但如果要进行分子检测，可能需要一些改动，比如控制组织固定。DNA和RNA提取可以标准化，并且应定期检查其产出的质量和数量。分析方法的选择取决于临床需求、期望的周转时间以及现有的专业知识。内部质量控制、对整个检测过程进行定期内部审核、实验室认可，以及持续参与外部质量评估计划，都是提供可靠服务的先决条件。分子病理报告应准确传达临床医生治疗患者所需的信息，并提供足够信息以便对结果进行正确解读。分子病理学发展迅速，对于本文涵盖的许多主题，还需要进一步详细的循证建议。
