Nghiên cứu biểu hiện lâm sàng, cận lâm sàng và phát hiện một số đột biến gen trong bệnh bạch cầu cấp dòng lympho tại Trung tâm Nhi khoa

Nghiên cứu biểu hiện lâm sàng, cận lâm sàng và phát hiện một số đột biến gen trong bệnh bạch cầu cấp dòng lympho tại Trung tâm Nhi khoa - Bệnh viện Trung ương Huế

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Tác giả: Thị Kim Hoa Nguyễn, Hùng Việt Phan, Kiêm Hảo Trần

Ngôn ngữ: vie

Ký hiệu phân loại: 581.2 Specific topics in natural history of plants

Thông tin xuất bản: Tạp chí Y học lâm sàng - Bệnh viện Trung ương Huế, 2022

Mô tả vật lý: 34-40

Bộ sưu tập: Metadata

ID: 499451

Thêm vào giỏ

Acute lymphoblastic leukemia (ALL) is the most common malignant disease in children. Some genetic abnormalities have been recognized to have prognostic or therapeutic relevance. In this study, we aimed to analyze the clinical presentations, laboratory features, and genetic abnormalities in childhood acute lymphoblastic leukemia patients Methods: It was a descriptive cross - sectional, prospective study on childhood acute lymphoblastic leukemia patients who admitted to the hospital between April - 2018 and May - 2021. Results: There were 58 new patients, the ratio of male to female was 1.64:1. The median age was 4.0 years (range: 0.66 to 15). The most common symptoms were anemia (82.8%), fever (74.1%), hepatomegaly (68.9%), splenomegaly (56.9%), enlarged lymph nodes (53.4%). Regarding laboratory features, 25.9% of the patients had white blood cell (WBC) ≥ 50 x 109/l, 82.8% patients had platelet (PLT) <
100 x 109/l, 79.3% patients had blood hemoglobin level (Hb) <
10 g/dl. Genetic analysis showed 22.4% patients have NUDT15 polymorphisms, 10.3% patients have TPMT polymorphisms, 13.7% patients have TEL/AML1, 3.4% patients have BCR - ABL, 3.4% patients have E2A/PBX1 and 1.7% patient have MLL/AF4. Conclusions: The most common clinical presentations were anemia, fever, hepatosplenomegaly, bone pain and bleeding. NUDT15 and TPMT polymorphisms guide to adjust 6MP dose, reduce toxicities and side effects for patients.Bệnh bạch cầu cấp là bệnh ung thư thường gặp nhất ở trẻ em. Một số đột biến gen giúp tiên lượng và cải tiến việc điều trị. Chúng tôi thực hiện đề tài này với mục đích: Mô tả đặc điểm lâm sàng và xét nghiệm bệnh bạch cầu cấp dòng lympho ở trẻ em, đặc biệt mô tả một số đột biến gen. Đối tượng và phương pháp: Nghiên cứu mô tả cắt ngang và tiến cứu trên những bệnh nhi bị bệnh bạch cầu cấp dòng lympho mới được nhập viện tại Trung Tâm Nhi - BVTW Huế từ tháng 4/2018 - 5/2021. Kết quả: Có 58 bệnh nhi bị bệnh bạch cầu cấp dòng lympho mới, tỷ lệ nam/nữ = 1,64/1. Tuổi trung bình là 4 tuổi (0,66 - 15 tuổi). Triệu chứng thường gặp nhất trong bệnh bạch cầu cấp dòng lympho là thiếu máu (82,8%), sốt (74,1%), gan lớn (68,9%), lách lớn (56,9%), hạch ngoại biên (53,4%), đau nhức xương (29,3%), và chảy máu (29,3%). Cận lâm sàng có 25,9% bệnh nhân có bạch cầu ≥ 50 x 109/l, 82,8% bệnh nhân có tiếu cầu <
100 x 109/l, 79,3% bệnh nhân có hemoglobin <
10 g/dl. Phân tích gen cho thấy 22,4% bệnh nhi có đa hình gen NUDT15, 10,3% có đa hình gen TPMT, 13,7% có gen TEL/AML1, 3,4% có gen BCR - ABL, 3,4% có gen E2A/PBX1, và 1,7% có gen MLL/AF4. Kết luận: Triệu chứng lâm sàng thường gặp nhất trong bệnh bạch cầu cấp là thiếu máu, sốt, gan lách lớn, đau xương và chảy máu. Đối với các bệnh nhi có đa hình gen NUDT15 và TPMT, cần điều chỉnh liều lượng thuốc 6 - MP sử dụng, hạn chế các độc tính và biến chứng xảy ra.

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