Title: A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours
Authors: Hostein, Isabelle ×
Debiec-Rychter, Maria
Olschwang, Sylvianne
Bringuier, Pierre-Paul
Toffolati, Louisa
Gonzalez, David
Forget, Sébastien
Escande, Fabienne
Morzuch, Lucyna
Tamborini, Elena
Faur, Nicolas
Pilotti, Silvana
Dei Tos, Paolo
Emile, Jean-François
Coindre, Jean-Michel #
Issue Date: Feb-2011
Publisher: Springer International
Series Title: Journal of Gastroenterology vol:46 issue:5 pages:586-594
Abstract: 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.
ISSN: 0944-1174
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Malignant Disorders
× corresponding author
# (joint) last author

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