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Endorsing good quality assurance practices in molecular pathology: risks and recommendations for diagnostic laboratories and external quality assessment providers

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Abstract

Quality assurance is an indispensable element in a molecular diagnostic laboratory. The ultimate goal is to warrant patient safety. Several risks that can compromise high quality procedures are at stake, from sample collection to the test performed by the laboratory, the reporting of test results to clinicians, and the organization of effective external quality assessment schemes. Quality assurance should therefore be safeguarded at each level and should imply a holistic multidisciplinary approach. This review aims to provide an overview of good quality assurance practices and discusses certain risks and recommendations to promote and improve quality assurance for both diagnostic laboratories and for external quality assessment providers. The number of molecular targets is continuously rising, and new technologies are evolving. As this poses challenges for clinical implementation and increases the demand for external quality assessment, the formation of an international association for improving quality assurance in molecular pathology is called for.

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References

  1. Finn WG (2007) Diagnostic pathology and laboratory medicine in the age of “omics”: a paper from the 2006 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 9:431–436. doi:10.2353/jmoldx.2007.070023

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  2. Hede K (2008) Breast cancer testing scandal shines spotlight on black box of clinical laboratory testing. J Natl Cancer Inst 100(836–837):844. doi:10.1093/jnci/djn200

    Google Scholar 

  3. Dietel M, Johrens K, Laffert M, Hummel M, Blaker H, Muller BM, Lehmann A, Denkert C, Heppner FL, Koch A, Sers C, Anagnostopoulos I (2013) Predictive molecular pathology and its role in targeted cancer therapy: a review focussing on clinical relevance. Cancer Gene Ther 20:211–221. doi:10.1038/cgt.2013.13

    Article  CAS  PubMed  Google Scholar 

  4. Tiacci E, Trifonov V, Schiavoni G, Holmes A, Kern W, Martelli MP, Pucciarini A, Bigerna B, Pacini R, Wells VA, Sportoletti P, Pettirossi V, Mannucci R, Elliott O, Liso A, Ambrosetti A, Pulsoni A, Forconi F, Trentin L, Semenzato G, Inghirami G, Capponi M, Di Raimondo F, Patti C, Arcaini L, Musto P, Pileri S, Haferlach C, Schnittger S, Pizzolo G, Foa R, Farinelli L, Haferlach T, Pasqualucci L, Rabadan R, Falini B (2011) BRAF mutations in hairy-cell leukemia. N Engl J Med 364:2305–2315. doi:10.1056/NEJMoa1014209

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  5. Foltran L, Maglio GD, Pella N, Ermacora P, Aprile G, Masiero E, Giovannoni M, Iaiza E, Cardellino GG, Lutrino SE, Mazzer M, Giangreco M, Pisa FE, Pizzolitto S, Fasola G (2015) Prognostic role of KRAS, NRAS, BRAF and PIK3CA mutations in advanced colorectal cancer. Future Oncol 11:629–640. doi:10.2217/fon.14.279

    Article  CAS  PubMed  Google Scholar 

  6. Seppala TT, Bohm JP, Friman M, Lahtinen L, Vayrynen VM, Liipo TK, Ristimaki AP, Kairaluoma MV, Kellokumpu IH, Kuopio TH, Mecklin JP (2015) Combination of microsatellite instability and BRAF mutation status for subtyping colorectal cancer. Br J Cancer 112:1966–1975. doi:10.1038/bjc.2015.160

    Article  CAS  PubMed  Google Scholar 

  7. Sorbye H, Dragomir A, Sundstrom M, Pfeiffer P, Thunberg U, Bergfors M, Aasebo K, Eide GE, Ponten F, Qvortrup C, Glimelius B (2015) High BRAF mutation frequency and marked survival differences in subgroups according to KRAS/BRAF mutation status and tumor tissue availability in a prospective population-based metastatic colorectal cancer cohort. PLoS One 10:e0131046. doi:10.1371/journal.pone.0131046

    Article  PubMed Central  PubMed  Google Scholar 

  8. Lochhead P, Kuchiba A, Imamura Y, Liao X, Yamauchi M, Nishihara R, Qian ZR, Morikawa T, Shen J, Meyerhardt JA, Fuchs CS, Ogino S (2013) Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication. J Natl Cancer Inst 105:1151–1156. doi:10.1093/jnci/djt173

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  9. Douillard JY, Oliner KS, Siena S, Tabernero J, Burkes R, Barugel M, Humblet Y, Bodoky G, Cunningham D, Jassem J, Rivera F, Kocakova I, Ruff P, Blasinska-Morawiec M, Smakal M, Canon JL, Rother M, Williams R, Rong A, Wiezorek J, Sidhu R, Patterson SD (2013) Panitumumab-FOLFOX4 treatment and RAS mutations in colorectal cancer. N Engl J Med 369:1023–1034. doi:10.1056/NEJMoa1305275

    Article  CAS  PubMed  Google Scholar 

  10. Bokemeyer C, Köhne C-H, Ciardiello F, Lenze H-J, Heinemann V, Klinkhardt U, Beier F, Duecker K, van Krieken JH, Tejpar S (2015) FOLFOX4 plus cetuximab treatment and RAS mutations in colorectal cancer. Eur J Cancer 51:1243–1252. doi:10.1016/j.ejca.2015.04.007

    Article  CAS  PubMed  Google Scholar 

  11. Cree IA, Deans Z, Ligtenberg MJ, Normanno N, Edsjo A, Rouleau E, Sole F, Thunnissen E, Timens W, Schuuring E, Dequeker E, Murray S, Dietel M, Groenen P, Van Krieken JH, European Society of Pathology Task Force on Quality Assurance in Molecular P, Royal College of P (2014) Guidance for laboratories performing molecular pathology for cancer patients. J Clin Pathol 67:923–931. doi:10.1136/jclinpath-2014-202404

    Article  Google Scholar 

  12. Tack V, Ligtenberg MJ, Tembuyser L, Normanno N, Vander Borght S, Han van Krieken J, Dequeker EM (2015) External quality assessment unravels interlaboratory differences in quality of RAS testing for anti-EGFR therapy in colorectal cancer. Oncologist 20:257–262. doi:10.1634/theoncologist.2014-0382

    Article  CAS  PubMed  Google Scholar 

  13. Tembuyser L, Tack V, Zwaenepoel K, Pauwels P, Miller K, Bubendorf L, Kerr K, Schuuring E, Thunnissen E, Dequeker EM (2014) The relevance of external quality assessment for molecular testing for ALK positive non-small cell lung cancer: results from two pilot rounds show room for optimization. PLoS One 9:e112159. doi:10.1371/journal.pone.0112159

    Article  PubMed Central  PubMed  Google Scholar 

  14. International Organization for Standardization (2012) ISO 15189:2012 Medical laboratories—particular requirements for quality and competence. ISO, Geneva

    Google Scholar 

  15. Normanno N, Rachiglio AM, Roma C, Fenizia F, Esposito C, Pasquale R, La Porta ML, Iannaccone A, Micheli F, Santangelo M, Bergantino F, Costantini S, De Luca A (2013) Molecular diagnostics and personalized medicine in oncology: challenges and opportunities. J Cell Biochem 114:514–524. doi:10.1002/jcb.24401

    Article  CAS  PubMed  Google Scholar 

  16. Gonzalez de Castro D, Clarke PA, Al-Lazikani B, Workman P (2013) Personalized cancer medicine: molecular diagnostics, predictive biomarkers, and drug resistance. Clin Pharmacol Ther 93:252–259. doi:10.1038/clpt.2012.237

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  17. Official Journal of the European Communities (1998) Directive 98/79/EC of the European Parliament and of the Council of 27 October 1998 on in vitro diagnostic medical devices.

  18. European Medicines Agency http://www.ema.europa.eu/ema/. Accessed April 27, 2015.

  19. U.S. Food and Drug Administration http://www.fda.gov/. Accessed April 27, 2015.

  20. Dubbink HJ, Deans ZC, Tops BB, van Kemenade FJ, Koljenovic S, van Krieken HJ, Blokx WA, Dinjens WN, Groenen PJ (2014) Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe. Mol Oncol 8:830–839. doi:10.1016/j.molonc.2014.03.004

    Article  PubMed  Google Scholar 

  21. Tejpar S, Celik I, Schlichting M, Sartorius U, Bokemeyer C, Van Cutsem E (2012) Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. J Clin Oncol 30:3570–3577. doi:10.1200/JCO.2012.42.2592

    Article  CAS  PubMed  Google Scholar 

  22. Chen CC, Er TK, Liu YY, Hwang JK, Barrio MJ, Rodrigo M, Garcia-Toro E, Herreros-Villanueva M (2013) Computational analysis of KRAS mutations: implications for different effects on the KRAS p.G12D and p.G13D mutations. PLoS One 8:e55793. doi:10.1371/journal.pone.0055793

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  23. Kircher SM, Mohindra N, Nimeiri H (2015) Cost estimates and economic implications of expanded RAS testing in metastatic colorectal cancer. Oncologist 20:14–18. doi:10.1634/theoncologist.2014-0252

    Article  PubMed Central  PubMed  Google Scholar 

  24. Salto-Tellez M, Gonzalez de Castro D (2014) Next-generation sequencing: a change of paradigm in molecular diagnostic validation. J Pathol 234:5–10. doi:10.1002/path.4365

    Article  PubMed  Google Scholar 

  25. McCourt CM, McArt DG, Mills K, Catherwood MA, Maxwell P, Waugh DJ, Hamilton P, O’Sullivan JM, Salto-Tellez M (2013) Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis. PLoS One 8:e69604. doi:10.1371/journal.pone.0069604

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  26. Gullapalli RR, Lyons-Weiler M, Petrosko P, Dhir R, Becich MJ, LaFramboise WA (2012) Clinical integration of next-generation sequencing technology. Clin Lab Med 32:585–599. doi:10.1016/j.cll.2012.07.005

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Bennett NC, Farah CS (2014) Next-generation sequencing in clinical oncology: next steps towards clinical validation. Cancers 6:2296–2312. doi:10.3390/cancers6042296

    Article  PubMed Central  PubMed  Google Scholar 

  28. EuroGentest (2014) Guidelines for diagnostic next generation sequencing. http://www.eurogentest.org/fileadmin/templates/eugt/pdf/NGS_Guidelines/EuroGentest_NGS_guidelines_2014_-_final_draft_02-12-2014_v2.pdf. Accessed 8 April 2015

  29. Meldrum C, Doyle MA, Tothill RW (2011) Next-generation sequencing for cancer diagnostics: a practical perspective. Clin Biochem Rev 32:177–195

    PubMed Central  PubMed  Google Scholar 

  30. Ulahannan D, Kovac MB, Mulholland PJ, Cazier JB, Tomlinson I (2013) Technical and implementation issues in using next-generation sequencing of cancers in clinical practice. Br J Cancer 109:827–835. doi:10.1038/bjc.2013.416

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  31. New York State Department of Health “Next Generation” Sequencing (NGS) guidelines for somatic genetic variant detection. http://www.wadsworth.org/labcert/TestApproval/forms/NextGenSeq_ONCO_Guidelines.pdf. Accessed 8 April 2015

  32. Clinical and Laboratory Standards Institute (2014) Nucleic Acid Sequencing Methods in Diagnostic Laboratory Medicine; Approved Guideline—Second Edition. CLSI document MM09-A2 (ISBN 1-56238-953-X)

  33. Aziz N, Zhao Q, Bry L, Driscoll DK, Funke B, Gibson JS, Grody WW, Hegde MR, Hoeltge GA, Leonard DG, Merker JD, Nagarajan R, Palicki LA, Robetorye RS, Schrijver I, Weck KE, Voelkerding KV (2015) College of American pathologists’ laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 139:481–493. doi:10.5858/arpa.2014-0250-CP

    Article  PubMed  Google Scholar 

  34. Gargis AS, Kalman L, Berry MW, Bick DP, Dimmock DP, Hambuch T, Lu F, Lyon E, Voelkerding KV, Zehnbauer BA, Agarwala R, Bennett SF, Chen B, Chin EL, Compton JG, Das S, Farkas DH, Ferber MJ, Funke BH, Furtado MR, Ganova-Raeva LM, Geigenmuller U, Gunselman SJ, Hegde MR, Johnson PL, Kasarskis A, Kulkarni S, Lenk T, Liu CS, Manion M, Manolio TA, Mardis ER, Merker JD, Rajeevan MS, Reese MG, Rehm HL, Simen BB, Yeakley JM, Zook JM, Lubin IM (2012) Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 30:1033–1036. doi:10.1038/nbt.2403

    Article  CAS  PubMed  Google Scholar 

  35. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. doi:10.1038/gim.2015.30

    Article  PubMed Central  PubMed  Google Scholar 

  36. Rolfo C, Castiglia M, Hong D, Alessandro R, Mertens I, Baggerman G, Zwaenepoel K, Gil-Bazo I, Passiglia F, Carreca AP, Taverna S, Vento R, Peeters M, Russo A, Pauwels P (2014) Liquid biopsies in lung cancer: the new ambrosia of researchers. Biochim Piophys Acta 1846:539–546. doi:10.1016/j.bbcan.2014.10.001

    CAS  Google Scholar 

  37. Bettegowda C, Sausen M, Leary RJ, Kinde I, Wang Y, Agrawal N, Bartlett BR, Wang H, Luber B, Alani RM, Antonarakis ES, Azad NS, Bardelli A, Brem H, Cameron JL, Lee CC, Fecher LA, Gallia GL, Gibbs P, Le D, Giuntoli RL, Goggins M, Hogarty MD, Holdhoff M, Hong SM, Jiao Y, Juhl HH, Kim JJ, Siravegna G, Laheru DA, Lauricella C, Lim M, Lipson EJ, Marie SK, Netto GJ, Oliner KS, Olivi A, Olsson L, Riggins GJ, Sartore-Bianchi A, Schmidt K, Shih M, Oba-Shinjo SM, Siena S, Theodorescu D, Tie J, Harkins TT, Veronese S, Wang TL, Weingart JD, Wolfgang CL, Wood LD, Xing D, Hruban RH, Wu J, Allen PJ, Schmidt CM, Choti MA, Velculescu VE, Kinzler KW, Vogelstein B, Papadopoulos N, Diaz Jr LA (2014) Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 6:224ra224. doi:10.1126/scitranslmed.3007094

    Article  Google Scholar 

  38. Crowley E, Di Nicolantonio F, Loupakis F, Bardelli A (2013) Liquid biopsy: monitoring cancer-genetics in the blood. Nat Rev Clin Oncol 10:472–484. doi:10.1038/nrclinonc.2013.110

    Article  CAS  PubMed  Google Scholar 

  39. Fleischhacker M, Schmidt B, Weickmann S, Fersching DM, Leszinski GS, Siegele B, Stotzer OJ, Nagel D, Holdenrieder S (2011) Methods for isolation of cell-free plasma DNA strongly affect DNA yield. Clin Chim Acta 412:2085–2088. doi:10.1016/j.cca.2011.07.011

    Article  CAS  PubMed  Google Scholar 

  40. Gulley ML, Braziel RM, Halling KC, Hsi ED, Kant JA, Nikiforova MN, Nowak JA, Ogino S, Oliveira A, Polesky HF, Silverman L, Tubbs RR, Van Deerlin VM, Vance GH, Versalovic J (2007) Clinical laboratory reports in molecular pathology. Arch Pathol Lab Med 131:852–863

    CAS  PubMed  Google Scholar 

  41. Thunnissen E, Bubendorf L, Dietel M, Elmberger G, Kerr K, Lopez-Rios F, Moch H, Olszewski W, Pauwels P, Penault-Llorca F, Rossi G (2012) EML4-ALK testing in non-small cell carcinomas of the lung: a review with recommendations. Virchows Arch 461:245–257. doi:10.1007/s00428-012-1281-4

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  42. van Krieken JH, Normanno N, Blackhall F, Boone E, Botti G, Carneiro F, Celik I, Ciardiello F, Cree IA, Deans ZC, Edsjo A, Groenen PJ, Kamarainen O, Kreipe HH, Ligtenberg MJ, Marchetti A, Murray S, Opdam FJ, Patterson SD, Patton S, Pinto C, Rouleau E, Schuuring E, Sterck S, Taron M, Tejpar S, Timens W, Thunnissen E, van de Ven PM, Siebers AG, Dequeker E (2013) Guideline on the requirements of external quality assessment programs in molecular pathology. Virchows Arch 462:27–37. doi:10.1007/s00428-012-1354-4

    Article  PubMed  Google Scholar 

  43. Garrido P, de Castro J, Concha A, Felip E, Isla D, Lopez-Rios F, Paz-Ares L, Ramirez J, Sanz J, Gomez JJ (2012) Guidelines for biomarker testing in advanced non-small-cell lung cancer. A national consensus of the Spanish Society of Medical Oncology (SEOM) and the Spanish Society of Pathology (SEAP). Clin Transl Oncol 14:338–349. doi:10.1007/s12094-012-0806-2

    Article  CAS  PubMed  Google Scholar 

  44. Organisation for Economic Co-operation and Development (2007) OECD guidelines for quality assurance in molecular genetic testing. Paris, OECD, 2007

  45. Linardou H, Briasoulis E, Dahabreh IJ, Mountzios G, Papadimitriou C, Papadopoulos S, Bafaloukos D, Kosmidis P, Murray S (2011) All about KRAS for clinical oncology practice: gene profile, clinical implications and laboratory recommendations for somatic mutational testing in colorectal cancer. Cancer Treat Rev 37:221–233. doi:10.1016/j.ctrv.2010.07.008

    Article  CAS  PubMed  Google Scholar 

  46. College of American Pathologists (2014) Laboratory Accreditation Program—Molecular Pathology Checklist

  47. Tembuyser L, Ligtenberg MJ, Normanno N, Delen S, van Krieken JH, Dequeker EM (2014) Higher quality of molecular testing, an unfulfilled priority: results from external quality assessment for KRAS mutation testing in colorectal cancer. J Mol Diagn 16:371–377. doi:10.1016/j.jmoldx.2014.01.003

    Article  CAS  PubMed  Google Scholar 

  48. Deans ZC, Wallace A, O’Sullivan B, Purvis A, Camus S, Fairley JA, Gonzalez D (2014) External quality assessment of BRAF molecular analysis in melanoma. J Clin Pathol 67:120–124. doi:10.1136/jclinpath-2013-201848

    Article  PubMed  Google Scholar 

  49. Breugom AJ, Boelens PG, van den Broek CB, Cervantes A, Van Cutsem E, Schmoll HJ, Valentini V, van de Velde CJ (2014) Quality assurance in the treatment of colorectal cancer: the EURECCA initiative. Ann Oncol 25:1485–1492. doi:10.1093/annonc/mdu039

    Article  CAS  PubMed  Google Scholar 

  50. Hall JA, Salgado R, Lively T, Sweep F, Schuh A (2014) A risk-management approach for effective integration of biomarkers in clinical trials: perspectives of an NCI, NCRI, and EORTC working group. Lancet Oncol 15:e184–e193. doi:10.1016/S1470-2045(13)70607-7

    Article  PubMed  Google Scholar 

  51. International Organization for Standardization (2004) ISO/IEC 17000:2004 - Conformity assessment—vocabulary and general principles. Geneva, ISO, 2004

  52. EU Legislation (2008) Regulation (EC) No 765/2008 of the European Parliament and of the Council of 9 July 2008 setting out the requirements for accreditation and market surveillance relating to the marketing of products and repealing Regulation (EEC) No 339/93, http://eur-lex.europa.eu/legal-content/EN/TXT/?qid=1428479329930&uri=URISERV:l33248. Accessed 8 April 2015

  53. Zekerheid FOS (2007) Koninklijk Besluit tot wijziging van de bijlage bij het Koninklijk Besluit van 14 September 1984 tot vaststelling van de nomenclatuur van de geneeskundige verstrekkingen inzake verplichte verzekering voor geneeskundige verzorging en uitkeringen. Belgisch Staatsblad

  54. Deans ZC, Bilbe N, O’Sullivan B, Lazarou LP, de Castro DG, Parry S, Dodson A, Taniere P, Clark C, Butler R (2013) Improvement in the quality of molecular analysis of EGFR in non-small-cell lung cancer detected by three rounds of external quality assessment. J Clin Pathol 66:319–325. doi:10.1136/jclinpath-2012-201227

    Article  CAS  PubMed  Google Scholar 

  55. Normanno N, Pinto C, Taddei G, Gambacorta M, Castiglione F, Barberis M, Clemente C, Marchetti A (2013) Results of the first Italian external quality assurance scheme for somatic EGFR mutation testing in non-small-cell lung cancer. J Thorac Oncol 8:773–778. doi:10.1097/JTO.0b013e31828c2b08

    Article  CAS  PubMed  Google Scholar 

  56. Patton S, Normanno N, Blackhall F, Murray S, Kerr KM, Dietel M, Filipits M, Benlloch S, Popat S, Stahel R, Thunnissen E (2014) Assessing standardization of molecular testing for non-small-cell lung cancer: results of a worldwide external quality assessment (EQA) scheme for EGFR mutation testing. Br J Cancer 111:413–420. doi:10.1038/bjc.2014.353

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  57. Marchetti A, Barberis M, Papotti M, Rossi G, Franco R, Malatesta S, Buttitta F, Ardizzoni A, Crino L, Gridelli C, Taddei GL, Clemente C, Scagliotti G, Normanno N, Pinto C (2014) ALK rearrangement testing by FISH analysis in non-small-cell lung cancer patients: results of the first Italian external quality assurance scheme. J Thorac Oncol 9:1470–1476. doi:10.1097/JTO.0000000000000280

    Article  CAS  PubMed  Google Scholar 

  58. von Laffert M, Penzel R, Schirmacher P, Warth A, Lenze D, Hummel M, Dietel M (2014) Multicenter ALK testing in non-small-cell lung cancer: results of a round robin test. J Thorac Oncol 9:1464–1469. doi:10.1097/JTO.0000000000000307

    Article  Google Scholar 

  59. Berwouts S, Girodon E, Schwarz M, Stuhrmann M, Morris MA, Dequeker E (2012) Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data. Eur J Hum Genet 20:1209–1215. doi:10.1038/ejhg.2012.131

    Article  PubMed Central  PubMed  Google Scholar 

  60. Dequeker E, Cassiman JJ (1998) Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment. Eur J Hum Genet 6:165–175

    Article  CAS  PubMed  Google Scholar 

  61. Ibarreta D, Elles R, Cassiman JJ, Rodriguez-Cerezo E, Dequeker E (2004) Towards quality assurance and harmonization of genetic testing services in the European Union. Nat Biotechnol 22:1230–1235

    Article  CAS  PubMed  Google Scholar 

  62. Dequeker E, Ramsden S, Grody WW, Stenzel TT, Barton DE (2001) Quality control in molecular genetic testing. Nat Rev Genet 2:717–723

    Article  CAS  PubMed  Google Scholar 

  63. van Krieken JH, Jung A, Kirchner T, Carneiro F, Seruca R, Bosman FT, Quirke P, Flejou JF, Plato Hansen T, de Hertogh G, Jares P, Langner C, Hoefler G, Ligtenberg M, Tiniakos D, Tejpar S, Bevilacqua G, Ensari A (2008) KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch 453:417–431. doi:10.1007/s00428-008-0665-y

    Article  PubMed  Google Scholar 

  64. International Organization for Standardization (2010) ISO/IEC 17043:2010 Conformity assessment—general requirements for proficiency testing. Geneva, ISO, 2010

  65. O’Brien CP, Taylor SE, O’Leary JJ, Finn SP (2014) Molecular testing in oncology: problems, pitfalls and progress. Lung Cancer 83:309–315. doi:10.1016/j.lungcan.2013.12.010

    Article  PubMed  Google Scholar 

  66. Normanno N, Rachiglio AM, Lambiase M, Martinelli E, Fenizia F, Esposito C, Roma C, Troiani T, Rizzi D, Tatangelo F, Botti G, Maiello E, Colucci G, Ciardiello F, on the behalf of the C-Gi (2015) Heterogeneity of KRAS, NRAS, BRAF and PIK3CA mutations in metastatic colorectal cancer and potential effects on therapy in the CAPRI GOIM trial. Ann Oncol 26(8):1710–1714. doi:10.1093/annonc/mdv176

    Article  Google Scholar 

  67. Thunnissen E, van der Oord K, den Bakker M (2014) Prognostic and predictive biomarkers in lung cancer. A review. Virchows Arch 464:347–358. doi:10.1007/s00428-014-1535-4

    Article  CAS  PubMed  Google Scholar 

  68. Shaw AT, Ou SH, Bang YJ, Camidge DR, Solomon BJ, Salgia R, Riely GJ, Varella-Garcia M, Shapiro GI, Costa DB, Doebele RC, Le LP, Zheng Z, Tan W, Stephenson P, Shreeve SM, Tye LM, Christensen JG, Wilner KD, Clark JW, Iafrate AJ (2014) Crizotinib in ROS1-rearranged non-small-cell lung cancer. N Engl J Med 371:1963–1971. doi:10.1056/NEJMoa1406766

    Article  PubMed Central  PubMed  Google Scholar 

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  1. Department of Public Health and Primary Care, Biomedical Quality Assurance Research Unit, KU Leuven - University of Leuven, Herestraat 49, box 602, 3000, Leuven, Belgium

    Lien Tembuyser & Elisabeth M. C. Dequeker

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Tembuyser, L., Dequeker, E.M.C. Endorsing good quality assurance practices in molecular pathology: risks and recommendations for diagnostic laboratories and external quality assessment providers. Virchows Arch 468, 31–41 (2016). https://doi.org/10.1007/s00428-015-1839-z

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