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DC Field | Value | Language |
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dc.contributor.author | Busuttil, Charlene | - |
dc.contributor.author | Saliba, Christian | - |
dc.contributor.author | Gauci, Stephanie | - |
dc.contributor.author | Falzon, Sharon | - |
dc.contributor.author | Grech, Godfrey | - |
dc.contributor.author | DeGaetano, James | - |
dc.date.accessioned | 2023-04-27T11:58:14Z | - |
dc.date.available | 2023-04-27T11:58:14Z | - |
dc.date.issued | 2012 | - |
dc.identifier.citation | Busuttil, C., Saliba, C., Gauci, S., Falzon, S., Grech, G., & DeGaetano, J. (2012). Mutational analysis of c-KIT and PDGFRA receptors in gastrointestinal stromal tumours. VIII Malta Medical School Conference abstract book, OP2.034. | en_GB |
dc.identifier.issn | 18133339 | - |
dc.identifier.uri | https://www.um.edu.mt/library/oar/handle/123456789/109020 | - |
dc.description.abstract | Introduction: The pathogenesis of gastrointestinal stromal tumors (GISTs) is generally associated with activating mutations of the proto-oncogene tyrosine-protein kinase Kit (c-KIT). However, about 15% of GISTs do not harbour c-KIT mutations. It is estimated that 5% of these GISTs have mutations in the platelet-derived growth factor receptor α (PDGFRA). Accurate diagnosis of GIST has become very important since the availability of targeted therapy with tyrosine kinase inhibitors, such as imatinib mesylate. The routine workup for GIST diagnosis includes immunohistochemistry for CD117 (c-KIT polyclonal antibody), as it is estimated that 95% of GIST cases show positive immunoreactivity. However, it can be observed that the routinely used immunohistochemical analysis does not provide complete sensitivity for GIST diagnosis, as there are nearly 5% of GISTs that are negative for c-KIT immunohistochemistry. Mutational analysis for c-KIT and PDGFRA can confirm the diagnosis of GIST, particularly in CD117-negative suspect GIST. Moreover, specific mutations have a prognostic and/or a predictive value for response to therapy. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | University of Malta. Medical School | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Platelet-derived growth factor | en_GB |
dc.subject | Proto-oncogene proteins c-kit | en_GB |
dc.subject | Gastrointestinal stromal tumors -- Malta -- Case studies | en_GB |
dc.subject | Gastrointestinal stromal tumors -- Diagnosis -- Malta | en_GB |
dc.subject | CD antigens | en_GB |
dc.title | Mutational analysis of c-KIT and PDGFRA receptors in gastrointestinal stromal tumours | en_GB |
dc.type | conferenceObject | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.bibliographicCitation.conferencename | Eighth Malta Medical School Conference | en_GB |
dc.bibliographicCitation.conferenceplace | St. Julians, Malta. 29/11-01/12/2012. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
dc.publication.title | Malta Medical Journal | en_GB |
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 receptors in gastrointestinal stromal tumours 2012.pdf | 122.52 kB | Adobe PDF | View/Open |
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