Microfluidic Deletion/Insertion Analysis for Rapid Screening of KIT and PDGFRA Mutations in CD117-Positive Gastrointestinal Stromal Tumors Alberto Zamò,

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Presentation transcript:

Microfluidic Deletion/Insertion Analysis for Rapid Screening of KIT and PDGFRA Mutations in CD117-Positive Gastrointestinal Stromal Tumors Alberto Zamò, Anna Bertolaso, Ilaria Franceschetti, Gregor Weirich, Paola Capelli, Sara Pecori, Marco Chilosi, Heinz Hoefler, Fabio Menestrina, Aldo Scarpa The Journal of Molecular Diagnostics Volume 9, Issue 2, Pages 151-157 (April 2007) DOI: 10.2353/jmoldx.2007.060041 Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Example of MIDIA analysis. A: Pseudo-gel image, samples 3 and 7 harbor a KIT deletion. B: Electropherogram of the smallest KIT alteration detected by MIDIA, a 3-bp insertion of sample 25. Short arrows: 15-bp and 600-bp markers; long arrows: PCR product peaks. The Journal of Molecular Diagnostics 2007 9, 151-157DOI: (10.2353/jmoldx.2007.060041) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 A: Chromatogram view of the new combined deletion and point mutation at 5′ end of KIT exon 11. Wild-type sequence in red, mutated sequence in blue; G to T point mutation squared in red. B: Sequence alignment of wild-type (red) and mutated (blue) sequences. The Journal of Molecular Diagnostics 2007 9, 151-157DOI: (10.2353/jmoldx.2007.060041) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Proposed flow chart for mutation detection in GISTs. The suggested flow chart differs according to the site of origin and the histological variant of the GIST. Green boxes refer to MIDIA, orange boxes refer to PCR sequencing or DHPLC analysis. Small squares below the indicated analysis describe the percentages of the resolved cases at each step. For example, among the spindle GIST originating from the stomach, 60% of mutations are detected at the first step by KIT exon 11 MIDIA analysis, a further 20% is detected by KIT exon 11 PCR sequencing/DHPLC, and an additional 20% by PDGFRA exon 12 and 18 DHPLC/sequencing. The remaining mutations are detected by KIT exon 9 MIDIA and by further DHPLC/sequencing analysis as indicated. The Journal of Molecular Diagnostics 2007 9, 151-157DOI: (10.2353/jmoldx.2007.060041) Copyright © 2007 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions