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Title: KIT gene mutation analysis in solid tumours: Biology, clincial applications and trends in diagnostic reporting
Authors: Tay, C.M.
Ong, C.W. 
Lee, V.K.M.
Pang, B.
Keywords: GISTs
KIT mutation
PDGFRA mutation
Personalised oncology
Tyrosine kinase inhibitor
Issue Date: Feb-2013
Citation: Tay, C.M., Ong, C.W., Lee, V.K.M., Pang, B. (2013-02). KIT gene mutation analysis in solid tumours: Biology, clincial applications and trends in diagnostic reporting. Pathology 45 (2) : 127-137. ScholarBank@NUS Repository.
Abstract: Gain-of-function mutations involving c-kit protein, a cellsurface transmembrane receptor for stem cell factor, have been identified as a key oncogenic driver in a variety of solid tumours. Coupled with the development of tyrosine kinase inhibitors such as imatinib, c-kit has emerged as a viable drug target in what seems to be a validated therapeutic concept. This review will focus on gastrointestinal stromal tumours and melanomas, two types of solid tumours most closely associated with KIT gene mutations. The biology of KIT mutations in both conditions, as well as the value of KIT mutation testing in predicting disease and treatment outcomes are discussed. Since initial response to imatinib is largely influenced by mutation status, genotyping these tumours serves to facilitate personalised oncology. We also summarise our experience with diagnostic reporting of KIT mutation analysis over a period of 3 years, and briefly survey future developments in treatment, which indeed look very promising. © 2013 Royal College of Pathologists of Australasia.
Source Title: Pathology
ISSN: 00313025
DOI: 10.1097/PAT.0b013e32835c7645
Appears in Collections:Staff Publications

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