U nguyên bào thần kinh độ thấp ở trẻ em trong kỷ nguyên chẩn đoán phân tử
Tóm tắt
U nguyên bào thần kinh độ thấp là khối u não phổ biến nhất ở trẻ em và bao gồm một phổ các thực thể mô học hiện đang được phân loại theo mức độ I và II của Tổ chức Y tế Thế giới. Chúng khác biệt đáng kể so với những đối tác của chúng ở người lớn về cả sự biến đổi di truyền cơ bản và tần suất biến đổi thành các khối u độ cao hơn. Tuy nhiên, trẻ em mắc u nguyên bào thần kinh độ thấp là một thách thức điều trị do sự không đồng nhất trong hành vi lâm sàng của chúng – đặc biệt là những trường hợp có cắt bỏ phẫu thuật không hoàn toàn thường phải chịu đựng những tiến triển lặp đi lặp lại dẫn đến tình trạng bệnh tật và, trong một số trường hợp, tử vong. Sự phát hiện sự gia tăng hoạt động của con đường RAS–protein kinase được kích hoạt bởi tác nhân (RAS/MAPK) như một đặc điểm gần như phổ quát của những khối u này đã dẫn đến việc phát triển các liệu pháp điều trị nhắm mục tiêu nhằm cải thiện phản ứng trong khi giảm thiểu tình trạng bệnh tật của bệnh nhân. Tại đây, chúng tôi xem xét cách thông tin phân tử có thể giúp xác định thêm các thực thể thuộc phạm vi u nguyên bào thần kinh độ thấp ở trẻ em. Trong quá trình đó, chúng tôi thảo luận về các yếu tố phân tử cụ thể điều khiển u nguyên bào thần kinh độ thấp ở trẻ em và cách kiểm tra hiệu quả chúng, xem xét các tác nhân điều trị mới nhất và khả năng sử dụng của chúng trong điều trị bệnh này, và đề xuất một hệ thống phân loại dựa trên rủi ro xem xét cả các tham số lâm sàng và phân tử để hỗ trợ các lương y trong việc ra quyết định điều trị.
Từ khóa
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