Detection of KIT/PDGFRA mutations in gastrointestinal stromal tumors of vietnamese patients at k hospital from 2017 to 2022

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Abstract

Background: A gastrointestinal stromal tumor (GIST) is a type of cancer that begins in the digestive system. Many studies on KIT/PDGFRA alterations have been performed in many laboratories worldwide, but there is a lack of assessment of its role in Vietnamese GIST patients, as well as the role of cancer-related gene mutations in predicting treatment response. This study identified the prevalence of KIT and PDGFRA molecular modifications; and clarified their correlation with clinicopathological parameters of Vietnamese GIST patients.
Methods: The mutational rate of KIT and PDGFRA were analyzed by Real-time PCR or Sanger sequencing in 177 specimens of GIST. SPSS 20.0 software was used to the correlation between genetic abnormalities and
clinicopathological characteristics.
Results: The rate of KIT and PDGFRA mutations were 60,5% and 13,6%, respectively. KIT changes were more usual
in smaller tumor sizes (p < 0,0001). A significant association between KIT mutations together with stomach origin of tumor position was determined, while PDGFRA alterations tend to be common in low-risk classification (p = 0,032). In addition, KIT mutation was mutually exclusive against that of PDGFRA mutations in GIST.
Conclusions: Our results indicate the information of molecular markers that contribute to self-sufficient oncogenic
mechanisms in the carcinogenesis and treatment of Vietnamese GISTs

https://doi.org/10.38103/jcmhch.16.6.2

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Published 28-12-2024
Fulltext
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Issue Vol. 16 No. 6 (2024)
Section Original article
DOI 10.38103/jcmhch.16.6.2
Keywords Từ khóa: KIT, PDGFRA, u mô đệm dạ dày ruột (GIST), đặc điểm bệnh học lâm sàng.

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Copyright (c) 2024 Journal of Clinical Medicine Hue Central Hospital

Linh, V. D., & Quang, N. N. (2024). Detection of KIT/PDGFRA mutations in gastrointestinal stromal tumors of vietnamese patients at k hospital from 2017 to 2022. Journal of Clinical Medicine Hue Central Hospital, 16(6), 11–16. https://doi.org/10.38103/jcmhch.16.6.2