caa a22 4500 445888938 CHVBK 20180317145609.0 cr unu---uuuuu 170323e20110501xx s 000 0 eng 10.1007/s00535-011-0375-0 doi (NATIONALLICENCE)springer-10.1007/s00535-011-0375-0 A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours [Elektronische Daten] [Isabelle Hostein, Maria Debiec-Rychter, Sylvianne Olschwang, Pierre-Paul Bringuier, Louisa Toffolati, David Gonzalez, Sébastien Forget, Fabienne Escande, Lucyna Morzuch, Elena Tamborini, Nicolas Faur, Silvana Pilotti, Paolo Dei Tos, Jean-François Emile, Jean-Michel Coindre] Background: Although most gastrointestinal stromal tumours (GIST) carry oncogenic mutations in KIT exons 9, 11, 13 and 17, or in platelet-derived growth factor receptor alpha (PDGFRA) exons 12, 14 and 18, around 10% of GIST are free of these mutations. Genotyping and accurate detection of KIT/PDGFRA mutations in GIST are becoming increasingly useful for clinicians in the management of the disease. Method: To evaluate and improve laboratory practice in GIST mutation detection, we developed a mutational screening quality control program. Eleven laboratories were enrolled in this program and 50 DNA samples were analysed, each of them by four different laboratories, giving 200 mutational reports. Results: In total, eight mutations were not detected by at least one laboratory. One false positive result was reported in one sample. Thus, the mean global rate of error with clinical implication based on 200 reports was 4.5%. Concerning specific polymorphisms detection, the rate varied from 0 to 100%, depending on the laboratory. The way mutations were reported was very heterogeneous, and some errors were detected. Conclusion: This study demonstrated that such a program was necessary for laboratories to improve the quality of the analysis, because an error rate of 4.5% may have clinical consequences for the patient. Springer, 2011 Mutation nationallicence GIST nationallicence Quality control nationallicence KIT nationallicence PDGFRA nationallicence Hostein Isabelle Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut Debiec-Rychter Maria Department of Human Genetics, University of Leuven, Leuven, Belgium aut Olschwang Sylvianne Centre de Recherche en Cancérologie de Marseille INSERM U891, Institut Paoli-Calmettes, Marseille, France aut Bringuier Pierre-Paul Laboratory of Pathology, Edouard Herriot Hospital, Lyon, France aut Toffolati Louisa Department of Pathology, CA Foncello Hospital, Treviso, Italy aut Gonzalez David Department of Hemato-Oncology, The Institute of Cancer Research, Sutton, UK aut Forget Sébastien Department of Biology and Pathology, Institute of Cancerology Gustave Roussy, Paris, France aut Escande Fabienne Biology and Pathological Laboratory, Lille Hospital, Lille, France aut Morzuch Lucyna Department of Biology and Genetics, Medical University of Gdansk, Gdańsk, Poland aut Tamborini Elena Laboratory of Experimental Pathology, Foundation IRCCS Tumor Institute, Milan, Italy aut Faur Nicolas Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut Pilotti Silvana Laboratory of Experimental Pathology, Foundation IRCCS Tumor Institute, Milan, Italy aut Dei Tos Paolo Department of Pathology, CA Foncello Hospital, Treviso, Italy aut Emile Jean-François Department of Pathology, Ambroise Pare Hospital, Boulogne, France aut Coindre Jean-Michel Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut Journal of Gastroenterology Springer Japan 46/5(2011-05-01), 586-594 0944-1174 46:5<586 2011 46 535 https://doi.org/10.1007/s00535-011-0375-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00535-011-0375-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hostein Isabelle Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut NATIONALLICENCE 700 1- Debiec-Rychter Maria Department of Human Genetics, University of Leuven, Leuven, Belgium aut NATIONALLICENCE 700 1- Olschwang Sylvianne Centre de Recherche en Cancérologie de Marseille INSERM U891, Institut Paoli-Calmettes, Marseille, France aut NATIONALLICENCE 700 1- Bringuier Pierre-Paul Laboratory of Pathology, Edouard Herriot Hospital, Lyon, France aut NATIONALLICENCE 700 1- Toffolati Louisa Department of Pathology, CA Foncello Hospital, Treviso, Italy aut NATIONALLICENCE 700 1- Gonzalez David Department of Hemato-Oncology, The Institute of Cancer Research, Sutton, UK aut NATIONALLICENCE 700 1- Forget Sébastien Department of Biology and Pathology, Institute of Cancerology Gustave Roussy, Paris, France aut NATIONALLICENCE 700 1- Escande Fabienne Biology and Pathological Laboratory, Lille Hospital, Lille, France aut NATIONALLICENCE 700 1- Morzuch Lucyna Department of Biology and Genetics, Medical University of Gdansk, Gdańsk, Poland aut NATIONALLICENCE 700 1- Tamborini Elena Laboratory of Experimental Pathology, Foundation IRCCS Tumor Institute, Milan, Italy aut NATIONALLICENCE 700 1- Faur Nicolas Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut NATIONALLICENCE 700 1- Pilotti Silvana Laboratory of Experimental Pathology, Foundation IRCCS Tumor Institute, Milan, Italy aut NATIONALLICENCE 700 1- Dei Tos Paolo Department of Pathology, CA Foncello Hospital, Treviso, Italy aut NATIONALLICENCE 700 1- Emile Jean-François Department of Pathology, Ambroise Pare Hospital, Boulogne, France aut NATIONALLICENCE 700 1- Coindre Jean-Michel Department of Pathology, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux cedex, France aut NATIONALLICENCE 773 0- Journal of Gastroenterology Springer Japan 46/5(2011-05-01), 586-594 0944-1174 46:5<586 2011 46 535 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer