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dc.identifier.citationGauci, S., Attard., J., Falzon., S., Avellino., R., Borg, J., Degaetano, J., & Grech, G. (2009). The characterization of c-Kit mutations in gastrointestinal stromal tumours. Conference: 7th Malta Medical School Conference. In Malta Medical Journal, 21, (Supplement).en_GB
dc.description.abstractGastrointestinal stromal tumours (GISTs) are specifically mesenchymal tumours arising throughout the gastrointestinal tract. The incidence is of approximately 2/100,000, with a 5-year survival in 50% of the patients. Up to 80% of GISTs are CD117 positive due to a mutation in the c-Kit, whilst Platelet Derived Growth Factor Receptor Alpha (PDGFRA) mutation is mostlycharacterized by CD117 negativity. Surgery is the main treatment in cases of benign and located GISTs, and imatinib mesylate is used in cases of metastasis or non-operable cases. The c-Kit mutations which respond to imatinib therapy are found in exons 11 and 9 whilst those resistant are found in exons 13 and 17. Considering the recent immunohistochemical discoveries and the increase in identification involving diagnosis and clinical approach in GIST, the aim of this retrospective study is to assess the sensitivity of various molecular techniques used to identify mutations in KIT hotspot exons 11, 9, 13 and 17 by using DNA and RNA isolated from formalin-fixed-paraffin-embedded (FFPE) tumour material from GIST patients. The main objective is to identify the genetic mutational profiles of c-Kit in GIST patients. The mutational state will also provide a molecular classification of patients and give information on prediction of therapy outcome that can be introduced in the diagnostic service.en_GB
dc.subjectGastrointestinal stromal tumorsen_GB
dc.subjectCancer -- Patientsen_GB
dc.titleThe characterization of c-Kit mutations in gastrointestinal stromal tumoursen_GB
dc.rights.holderThe 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.conferencename7th Malta Medical School Conferenceen_GB
dc.bibliographicCitation.conferenceplaceMalta, 5-7/11/2009en_GB
dc.publication.titleMalta Medical Journalen_GB
dc.contributor.creatorGauci, S.
dc.contributor.creatorAttard, Jason
dc.contributor.creatorFalzon, Sharon
dc.contributor.creatorAvellino, Roberto
dc.contributor.creatorBorg, Joseph
dc.contributor.creatorDeGaetano, James
dc.contributor.creatorGrech, Godfrey
Appears in Collections:Scholarly Works - FacM&SPat

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