KIT/PDGFRA mutations and their associations with clinicopathological parameters in gastrointestinal stromal tumors of Vietnamese patients
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Abstract
The study was designed to evaluate the prevalence of KIT/PDGFRA alterations, and to analyze the relationship between gene changes and clinical/pathological characteristics of Vietnamese GIST patients. Cross-sectional research was performed on 177 cases with GIST tumor, which was diagnosed in K Hospital, Vietnam. Realtime PCR allows identifying KIT/PDGFRA mutations. The frequency of KIT and PDGFRA mutations were 60.5% and 13.6%, in turn. In GISTs, KIT and PDGFRA modifications were not co-existence. KIT, as well as KIT/PDGFRA, changes tend to be in smaller tumor sizes (p<0.05). Moreover, KIT mutations had more significant frequency in the stomach than in other sites (intestinal and outside the gastrointestinal tract). PDGFRA alterations tend to be common in low-risk classification (p=0.032). The results provide molecular profiling, including KIT and PDGFRA mutations, which orient targeted therapy for Vietnamese GISTs, in which KIT exon 11 mutations are the most sensitive to imatinib, in contrast, the PDGFRA exon 18 variants (D842V) are resistant to this TKI. Additionally, GIST patients carrying PDGFRA mutation can be a potential biomarker for predicting the risk of tumor classification in the Vietnamese population.
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