A quality control program for mutation detection in KIT and PDGFRA in gastrointestinal stromal tumours

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 / PDG...

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Published in:Journal of gastroenterology 2011-05, Vol.46 (5), p.586-594
Main 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
Format: Article
Language:English
Subjects:
Abdominal Surgery
Cancer
Colorectal Surgery
DNA Mutational Analysis
DNA Mutational Analysis - methods
DNA, Neoplasm
DNA, Neoplasm - analysis
Exons
Gastroenterology
Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors - genetics
Genetic aspects
Genotype
Hepatology
Humans
Laboratories
Laboratories - standards
Life Sciences
Medicine
Medicine & Public Health
Mutation
Original Article—Alimentary Tract
Platelet-derived growth factor
Polymorphism, Genetic
Proto-Oncogene Proteins c-kit
Proto-Oncogene Proteins c-kit - genetics
Quality Control
Receptor, Platelet-Derived Growth Factor alpha
Receptor, Platelet-Derived Growth Factor alpha - genetics
Surgical Oncology
Tumors
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Summary: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
1435-5922
DOI:10.1007/s00535-011-0375-0