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Int. J. Mol. Sci. 2015, 16(7), 15592-15608; doi:10.3390/ijms160715592

Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis

1
Department of Pharmacy and Biotechnology, University of Bologna, via Irnerio 48, 40126 Bologna, Italy
2
Department of Specialized, Experimental and Diagnostic Medicine, Sant'Orsola-Malpighi Hospital, University of Bologna, via Massarenti 9, 40138 Bologna, Italy
3
"Giorgio Prodi" Cancer Research Center, University of Bologna, via Massarenti 11, 40126 Bologna, Italy
These authors contributed equaly to this work.
*
Author to whom correspondence should be addressed.
Academic Editor: Bing Yan
Received: 1 June 2015 / Revised: 7 July 2015 / Accepted: 7 July 2015 / Published: 9 July 2015
(This article belongs to the Special Issue Pharmacogenetics and Personalized Medicine)
View Full-Text   |   Download PDF [847 KB, uploaded 9 July 2015]   |  

Abstract

Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract. They are characterized by gain of function mutations in KIT or PDGFRA tyrosine kinase receptors, with their consequent constitutive activation. The gold standard therapy is imatinib that offers a good and stable response for approximately 18–36 months. However, resistance is very common and it is vital to identify new biomarkers. Up until now, there have been two main approaches with focus to characterize novel targets. On the one hand, the focus is on the tumor genome, as the final clinical outcome depends mainly from the cancer specific mutations/alterations patterns. However, the germline DNA is important as well, and it is inconceivable to think the patients response to the drug is not related to it. Therefore the aim of this review is to outline the state of the art of the personalized medicine in GIST taking into account both the tumor DNA (somatic) and the patient DNA (germline). View Full-Text
Keywords: GIST; KIT/PDGFRA mutant GIST; WT-GIST; personalized therapy; biomarkers; drug resistance; polymorphisms GIST; KIT/PDGFRA mutant GIST; WT-GIST; personalized therapy; biomarkers; drug resistance; polymorphisms
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Ravegnini, G.; Nannini, M.; Sammarini, G.; Astolfi, A.; Biasco, G.; Pantaleo, M.A.; Hrelia, P.; Angelini, S. Personalized Medicine in Gastrointestinal Stromal Tumor (GIST): Clinical Implications of the Somatic and Germline DNA Analysis. Int. J. Mol. Sci. 2015, 16, 15592-15608.

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