Document Detail

KIT gene mutation analysis in solid tumours: biology, clincial applications and trends in diagnostic reporting.
MedLine Citation:
PMID:  23277171     Owner:  NLM     Status:  In-Data-Review    
SUMMARY: Gain-of-function mutations involving c-kit protein, a cell-surface 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.
Clifton Ming Tay; Chee Wee Ong; Victor Kwan Min Lee; Brendan Pang
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Pathology     Volume:  45     ISSN:  1465-3931     ISO Abbreviation:  Pathology     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0175411     Medline TA:  Pathology     Country:  England    
Other Details:
Languages:  eng     Pagination:  127-37     Citation Subset:  IM    
*Yong Loo Lin School of Medicine, National University of Singapore †Department of Pathology, National University Health System, Singapore ‡Cancer Science Institute, National University of Singapore, Singapore.
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