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https://www.um.edu.mt/library/oar/handle/123456789/108812
Title: | Mutational analysis of c-KIT and PDGFRA in GIST cases diagnosed locally |
Authors: | Busuttil, Charlene Masini, Maria Saliba, Christian Falzon, Sharon Grech, Godfrey Degaetano, James |
Keywords: | Proto-oncogene proteins c-kit Platelet-derived growth factor Gastrointestinal stromal tumors -- Diagnosis -- Malta CD antigens |
Issue Date: | 2015 |
Publisher: | University of Malta. Medical School |
Citation: | Busuttil, C., Masini, M., Saliba, C., Falzon, S., Grech, G., & Degaetano, J. (2015). Mutational analysis of c-KIT and PDGFRA in GIST cases diagnosed locally. IX Malta Medical School Conference abstract book, OP1.39. |
Abstract: | Introduction: The pathogenesis of most gastrointestinal stromal tumours (GISTs) is associated with activating mutations of the proto-oncogene tyrosine kinase KIT (c-KIT). Activating mutations are also found in the homologous tyrosine kinase platelet-derived growth factor receptor a (PDGFRA). Accurate diagnosis of GIST is essential due to the availability of targeted therapy. Immunohistochemistry (IHC) for CD117 (c-KIT receptor) is routinely performed in the diagnostic workup, however, it does not provide complete sensitivity, as there are nearly 5% of GISTs that are CD117 negative. The aim of this study was to identify cKIT and PDGFRA mutations present in GIST cases diagnosed locally. |
URI: | https://www.um.edu.mt/library/oar/handle/123456789/108812 |
ISSN: | 18133339 |
Appears in Collections: | Scholarly Works - FacM&SPat |
Files in This Item:
File | Description | Size | Format | |
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Mutational analysis of c KIT and PDGFRA in GIST cases diagnosed locally 2015.pdf | 127.73 kB | Adobe PDF | View/Open |
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