ABSTRACT
Background: Gastrointestinal stromal tumors [GISTs] are potentially malignant tumors; however their behavior and response to treatment is dependent on the type of mutation and immunohistochemical expression of antigens. It is recommended to perform routine molecular and immunohistochemical tests in KIT and platelet derived growth factor receptor alpha [PDGFRA] molecules for making decision regarding targeted therapy and prediction of the behavior of the tumor
Objectives: There has been no study from Iran regarding the PDGFRA mutational analysis in GISTs. In this study, for the first time from Iran, we performed immunohistochemical and molecular analysis of PDGFRA molecule on GISTs
Methods: In a cross-sectional study during 7 years [2008-2014] on 50 untreated non-recurrent non-metastatic newly diagnosed GISTs, molecular analysis and immunohistochemical staining for PDGFRA were performed and findings were compared with different clinicopathological characteristics
Results: During the 7 years, 50 cases of GISTs according to the above mentioned criteria were found. 17 cases were negative for KIT mutation. Of them, 15 [30%] were positive for either exon 12 or 18 mutation of PDGFRA. These cases showed more epithelioid morphology and the number of mitotic figures were lower than PDFRA negative GISTs. Also according to the criteria for risk assessment, it seems that PDGFRA mutant GISTs are rarely in the high risk category
Conclusion: PDGFRA mutant GISTs are common in Iranian population and it is recommended to perform mutation analysis for PDGFRA in every GIST with wild type KIT and epithelioid morphology