@Article{096504016X14576297492418,
AUTHOR = {Yasemin Baskin, Gizem Calibasi Kocal, Betul Bolat Kucukzeybek, Mahdi Akbarpour, Nurcin Kayacik, Ozgul Sagol, Hulya Ellidokuz, Ilhan Oztop},
TITLE = {<i>PDGFRA</i> and <i>KIT</i> Mutation Status and Its Association With Clinicopathological Properties, Including DOG1},
JOURNAL = {Oncology Research},
VOLUME = {24},
YEAR = {2016},
NUMBER = {1},
PAGES = {41--53},
URL = {http://www.techscience.com/or/v24n1/56609},
ISSN = {1555-3906},
ABSTRACT = {Most of the gastrointestinal stromal tumors (GISTs) have gain-of-function mutations in the KIT gene, which 
can be used as a prognostic marker for the biological behavior of tumors, predictive marker for the response of 
tyrosine kinase inhibitors, and diagnostic marker. Researchers have focused on <i>PDGFRA</i> mutations because 
of both their prognostic and predictive potential and DOG1 positivity for diagnosis on GISTs. The aim of 
this study is to investigate the effect DOG1, <i>PDGFRA</i>, and <i>KIT</i> mutations on the prediction of the outcome 
for GIST management. Polymerase chain reaction was performed for <i>KIT</i> gene exons 9, 11, 13, and 17 and 
<i>PDGFRA</i> gene exons 12 and 18 with the genomic DNA of 46 GIST patients, and amplicons were sequenced 
in both directions. Immunocytochemical stainings were done by using primary antibodies. Molecular analysis 
revealed that the <i>KIT</i> mutation was observed in 63% of all cases, while the <i>PDGFRA</i> mutation was observed 
in 23.9% of cases. Significant relationships were found between age and <i>KIT</i> mutation, tumor location and <i>KIT</i>
mutations, and tumor location and <i>PDGFRA</i> mutations (p≤0.05). DOG1 positivity was detected in 65.2% of 
all GISTs and DOG1-positive cells had a higher <i>KIT</i> mutation ratio than DOG1-negative cells (p≤0.05). <i>KIT</i>
gene exon 11 mutations in DOG1-positive cells was higher than DOG1-negative cells (p≤0.05). Conversely, 
<i>KIT</i> gene exon 13 mutations were higher in DOG1-negative cells than DOG1-positive cells (p≤0.05). In this 
study, <i>KIT</i> mutation frequency was found similar with the European population; conversely, <i>PDGFRA</i> mutation frequency was similar with an Asian-Chinese-based study. <i>KIT/PDGFRA</i> mutations and tumor location 
can be used for the prediction of tumor behavior and the management of disease in GISTs. DOG1 positivity 
might be a candidate marker to support <i>KIT</i> and <i>PDGFRA</i> mutations, due to the higher DOG1 positivity in <i>KIT</i> 
exon 11 mutant and stomach- and small intestine-localized GISTs.},
DOI = {10.3727/096504016X14576297492418}
}