Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Phân tích hồ sơ đột biến mục tiêu mắc phải của các tổn thương tiền phát của ung thư đại trực tràng
Tóm tắt
Hầu hết các trường hợp ung thư đại trực tràng (CRC) xuất phát từ các tổn thương tiền phát. Nghiên cứu này nhằm mục đích xác định hồ sơ đột biến của các tổn thương tiền phát của ung thư đại trực tràng trong một quần thể của Brazil. Tổng cộng, 90 tổn thương tiền phát của đại trực tràng được bảo quản bằng formalin và nhúng parafin, bao gồm 67 adenoma, 7 tổn thương răng cưa sessile và 16 polyp hyperplastic, đã được phân tích bằng cách sử dụng quy trình giải trình tự thế hệ mới với một bảng gồm 50 oncogenes và gen ức chế khối u. Di truyền tổ tiên của bệnh nhân cũng được đánh giá. Các đột biến dẫn đến bệnh lý mắc phải đã được xác định trong 66,7% số trường hợp, bao gồm các biến đổi ở APC (32,2%), TP53 (20,0%), KRAS (18,9%), BRAF (13,3%) và EGFR (7,8%). Các adenoma thể hiện số lượng đột biến cao hơn, chủ yếu là ở APC, so với polyp răng cưa (73,1% so với 47,8%, p = 0,026). Các adenoma tiên tiến có tần suất đột biến KRAS cao hơn đáng kể và tỷ lệ đột biến tổng thể cao hơn so với các adenoma sớm (92,9% so với 59%, p = 0,006). Một mức độ trộn lẫn tổ tiên cao đã được quan sát trong quần thể được nghiên cứu, với tỷ lệ cao của các thành phần châu Âu (trung bình 73%) tiếp theo là châu Phi (trung bình 11,3%). Không có sự liên quan nào được tìm thấy giữa tổ tiên di truyền và loại tổn thương. Hồ sơ đột biến của các tổn thương tiền phát của ung thư đại trực tràng ở Brazil cho thấy sự thay đổi trong APC, KRAS, TP53 và BRAF với các tần suất khác nhau tùy thuộc vào loại tổn thương. Những kết quả này cung cấp kiến thức về lịch sử sinh học của CRC và hỗ trợ tiềm năng của những dấu hiệu sinh học này trong việc phát hiện các tổn thương tiền phát trong việc sàng lọc CRC ở quần thể Brazil.
Từ khóa
#ung thư đại trực tràng #tổn thương tiền phát #đột biến somatic #di truyền tổ tiên #phân tích trình tự genTài liệu tham khảo
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