CLINICOPATHOLOGICAL FEATURES AND TISSUE-BASED KIT AND PDGFRA MUTATIONS IN PATIENTS WITH GASTROINTESTINAL STROMAL TUMORS
Main Article Content
Abstract
Objectives: To describe the clinical, paraclinical characteristics, and genetic mutation (KIT, PDGFRA) status, and their associations in gastrointestinal stromal tumors (GISTs) at Hanoi Medical University Hospital (HMUH). Methods: A retrospective descriptive study was conducted on 31 patients diagnosed with GISTs (confirmed by pathology and immunohistochemistry) and underwent next-generation sequencing (NGS) test from August 2023 to October 2025 at HMUH. Results: The most frequent age group was 60 - 69 years. Abdominal pain was the most frequent presenting symptom (65%). The stomach was the most common primary site, followed by small intestine. The most prevalent metastatic sites were the liver and peritoneum. Regarding genetic mutations, KIT Exon 11 mutations were the most prevalent (accounting for 71%). No significant association was found between tumor size and mitotic index, disease stage, and primary tumor site. Conclusion: GISTs are most commonly found in middle-aged patients, primarily originating in the stomach and frequently metastasizing to the liver and peritoneum. KIT Exon 11 mutations were the most prevalent. No associations were found between tumor size and mitotic index, stage, or tumor site.
Keywords
Gastrointestinal stromal tumor, Gene mutation, KIT Exon 11 gene, PDGFRA gene, Next-generation sequencing
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References
2. Joensuu H, Vehtari A, Riihimäki J, et al. Risk of recurrence of gastrointestinal stromal tumour after surgery: An analysis of pooled population-based cohorts. Lancet Oncol. 2012; 13:265-274.
3. DeMatteo RP, Maki RG, Agulnik M, et al. Gastrointestinal stromal tumor. In: AJCC Cancer Staging Manual, 8th ed, Amin MB (Ed), AJCC, Chicago 2017. p.523. Corrected at 4th printing, 2018.
4. Vương Diệu Linh, Nguyễn Ngọc Quang. Xác định đặc điểm đột biến KIT và PDGFRA ở BN u mô đệm dạ dày - ruột tại Bệnh viện K giai đoạn 2017 - 2022. Tạp chí học Lâm sàng Bệnh viện Trung ương Huế. 2024; 16:11-16.
5. Nguyễn Thu Phương, Nguyễn Tiến Đức. Đánh giá kết quả điều trị imatinib trên BN u mô đệm đường tiêu hóa (GISTs) tại Bệnh viện K. Tạp chí Y học Việt Nam. 2024; 538(3).
6. Yu X, Liang X, Wen K. Clinical characteristics and prognosis of gastrointestinal stromal tumors with rare site metastasis (Review). Oncol Lett. 2022; 24:1-9.
7. Liegl B, Hornick JL, Corless CL, Fletcher CDM. Monoclonal antibody DOG1.1 shows higher sensitivity than KIT in the diagnosis of gastrointestinal stromal tumors, including unusual subtypes. Am J Surg Pathol. 2009; 33:437.
8. Corless CL, Barnett CM, Heinrich MC. Gastrointestinal stromal tumours: Origin and molecular oncology. Nat Rev Cancer. 2011; 11:865-878.
9. Joensuu H, Rutkowski P, Nishida T, et al. KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence. J Clin Oncol. 2015; 33:634-642.
10. Đỗ Hùng Kiên. Nghiên cứu kết quả điều trị u mô đệm đường tiêu hoá (GISTs) giai đoạn muộn bằng Imatinib tại Bệnh viện K. Luận văn Tiến sĩ Y học. Đại học Y Hà Nội. 2017.