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Med Sci (Paris). 2013 Jun-Jul;29(6-7):630-6. doi: 10.1051/medsci/2013296016. Epub 2013 Jul 12.

[Gastrointestinal stromal tumors (GIST): at the forefront of targeted therapies].

[Article in French]

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1
Université de Versailles, hôpital Ambroise Paré, assistance publique-hôpitaux de Paris, Boulogne, France.

Abstract

Although gastrointestinal stromal tumors (GIST) are the most frequent sarcomas, they were usually not diagnosed before 1998. GIST derive from interstitial cells of Cajal, and may develop along the digestive tract, mainly from stomach and small intestine. GIST are characterized by the expression of KIT (CD117), and mutations KIT or PDGFRA are present in 85 % of cases. More than 150 different types of mutations have been reported. They are responsible for a constitutive activation of these tyrosine kinase receptors, in absence of their specific ligand. Detection of these mutations may help to confirm the diagnosis or to evaluate the prognosis. The mutations also have a predictive value. Indeed patients with metastatic GIST and duplication within exon 9 of KIT deserve to receive twice the dose of imatinib, while GIST with PDGFRA p.D842 V mutation are resistant to this drug. This review presents the main characteristics of GIST, and focus on the important insights of studies on GIST and their cell models in the field of oncology.

PMID:
23859518
DOI:
10.1051/medsci/2013296016
[Indexed for MEDLINE]
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