Phân tích đặc điểm một số biến đổi di truyền ở bệnh nhân ung thư đại trực tràng

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Tác giả: Hoàng Hà Chu, Ngọc Quang Nguyễn, Diệu Linh Vương

Ngôn ngữ: Vie

Ký hiệu phân loại: 616.994 +Cancers

Thông tin xuất bản: VNU Journal of Science: Medical and Pharmaceutical Science, 2023

Mô tả vật lý: 91-96

Bộ sưu tập: Metadata

ID: 421254

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Tóm tắt
Chủ đề

Tỷ lệ đột biến KRAS, BRAF, NRAS, PIK3CA và AKT và mối liên quan giữa những đột biến này với một số đặc điểm của ung thư đại trực tràng (UTĐTT) được nghiên cứu trên151 bệnh nhân được chẩn đoán ung thư đại trực tràng tại Bệnh viện K từ năm 2020 đến năm 2022. Nghiên cứu mô tả cắt ngang sử dụng phương pháp nghiên cứu như tách chiết DNA tổng số từ mẫu FFPE
xác định đột biến gen bằng phương pháp Real-time PCR. Tỷ lệ đột biến KRAS, BRAF, NRAS, PIK3CA và AKT lần lượt là 37,1%, 7,3%
2,6%
12,6% và 1,3%. Đột biến KRAS có mối tương quan có ý nghĩa với yếu tố kích thước khối u. Ngoài ra, đột biến KRAS loại trừ đột biến BRAF và có xu hướng xuất hiện cùng đột biến PIK3CA (p<
0,05). Bên cạnh đột biến KRAS xảy ra phổ biến ở bệnh nhân ung thư đại trực tràng, các biến đổi gen BRAF, NRAS, PIK3CA và AKT được phát hiện với tần suất 1,3-12,6%. Có sự khác biệt giữa tỷ lệ đột biến các gen này ở các nhóm bệnh nhân khác nhau về kích thước khối u, cũng như mối tương quan giữa các đột biến., Tóm tắt tiếng anh, This study aims to evaluate the mutation status of KRAS, BRAF, NRAS, PIK3CA, and AKT and analyze the association of gene mutations with clinicopathological characteristics of colorectal cancer. 151 colorectal cancer patients were diagnosed at Pathology and Molecular Biology Center in National Cancer Hospital K. The research was conducted as a cross-sectional study using methods such as genomic DNA extraction
mutation analysis by Real-time PCR. Mutation rates of KRAS, BRAF, NRAS, PIK3CA, and AKT were 37.1%, 7.3%, 2.6%, 12.6%, and 1.3%, respectively. KRAS mutation was significantly associated with the size tumor. Additionally, KRAS mutation was mutually exclusive against that of BRAF mutation and tended to coexist with PIK3CA mutation (p<
0.05). In conclusion, the most popular mutation in colorectal cancer was KRAS. These were different in gene mutations with clinicopathological characteristics as well as each mutation with others.

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