title: Guidance for laboratories performing molecular pathology for cancer patients.
abstract: 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.
authors.affiliation: Warwick Medical School, University Hospital Coventry and Warwickshire, Coventry, UK Institute of Ophthalmology, University College London, London, UK.
authors.forename: Ian A
authors.identifier: http://orcid.org/0000-0001-5007-9456
authors.initials: IA
authors.lastname: Cree
authors.affiliation: UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, UK.
authors.forename: Zandra
authors.initials: Z
authors.lastname: Deans
authors.affiliation: Department of Pathology 824, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Marjolijn J L
authors.initials: MJ
authors.lastname: Ligtenberg
authors.affiliation: Cell Biology and Biotherapy Unit, INT-Fondazione Pascale, Naples, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Normanno
authors.affiliation: Clinical Molecular Pathology Unit, Clinical Pathology and Genetics, Sahlgrenska University Hospital and Sahlgrenska Cancer Center, the Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Edsjö
authors.affiliation: Service de Génétique, Unités de Génétique constitutionnelle et somatique, Paris, France.
authors.forename: Etienne
authors.initials: E
authors.lastname: Rouleau
authors.affiliation: Institut de Recerca contra la Leucèmia Josep Carreras (IJC), Barcelona, Spain.
authors.forename: Francesc
authors.initials: F
authors.lastname: Solé
authors.affiliation: Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Erik
authors.initials: E
authors.lastname: Thunnissen
authors.affiliation: Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Wim
authors.initials: W
authors.lastname: Timens
authors.affiliation: Department of Pathology and Medical Biology, University Medical Center Groningen, Groningen, The Netherlands.
authors.forename: Ed
authors.initials: E
authors.lastname: Schuuring
authors.affiliation: Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit, KU Leuven-University of Leuven, Leuven, Belgium.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Dequeker
authors.affiliation: Biomarker Solutions Ltd, London, UK.
authors.forename: Samuel
authors.initials: S
authors.lastname: Murray
authors.affiliation: Institute of Pathology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
authors.forename: Manfred
authors.initials: M
authors.lastname: Dietel
authors.affiliation: Department of Pathology 824, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Patricia
authors.initials: P
authors.lastname: Groenen
authors.affiliation: Department of Pathology 824, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: J Han
authors.initials: JH
authors.lastname: Van Krieken
mesh_terms: D019985:Benchmarking / Q000592:standards*; D014408:Biomarkers, Tumor / Q000235:genetics*; D005820:Genetic Testing / Q000592:standards*; D019983:Guideline Adherence / Q000592:standards; D006801:Humans; D007753:Laboratories / Q000592:standards*; D008495:Medical Oncology / Q000592:standards*; D008499:Medical Records / Q000592:standards; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D057089:Pathology, Molecular / Q000592:standards*; D017410:Practice Guidelines as Topic / Q000592:standards*; D011237:Predictive Value of Tests; D011379:Prognosis; D013048:Specimen Handling / Q000592:standards
chemical_list: D014408:Biomarkers, Tumor
keywords: Laboratory Tests; Molecular Oncology; Molecular Pathology; Neoplasms; Quality Control