Bước đầu định lượng JAK2 V617F bằng Droplet digital PCR trên bệnh tân sinh tăng sinh tủy tại Bệnh viện Truyền máu Huyết học

0 Người đánh giá. Xếp hạng trung bình 0

Tác giả: Sỹ Luân Cao, Thị Tuyết Thu Đoàn, Trần Nam An Nguyễn, Thị Xinh Phan, Chí Dũng Phù

Ngôn ngữ: vie

Ký hiệu phân loại: 615.65 Pharmacology and therapeutics

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2022

Mô tả vật lý: 290-297

Bộ sưu tập: Metadata

ID: 500787

Thêm vào giỏ

Bước đầu định lượng đột biến JAK2 V617F bằng kỹ thuật PCR kỹ thuật số (ddPCR) để chẩn đoán và theo dõi điều trị ở những bệnh nhân tân sinh tăng sinh tủy (MPN) có đột biến JAK2 V617F (đột biến điểm tại vị trí V617). Phương pháp nghiên cứu: Mô tả loạt ca, hồi cứu, triển khai kỹ thuật mới. Trong nghiên cứu này, chúng tôi đánh giá độ chính xác, độ nhạy và độ tái lặp của phương pháp định lượng đột biến JAK2 V617F bằng kỹ thuật ddPCR. Sau đó, sử dụng kỹ thuật này để xác định tỷ lệ đột biến JAK2 V617F trên mẫu ngoại kiểm và mẫu bệnh nhân MPN được chẩn đoán và điều trị tại Bệnh viện Truyền máu Huyết học (BVTMHH). Kết quả: Chúng tôi đã xác định tỷ lệ đột biến JAK2 V617F trong mẫu chứng cũng như mẫu bệnh nhân MPN được chẩn đoán và điều trị tại BVTMHH có độ nhạy, độ chính xác và độ tái lặp cao với hệ số biến thiên (CV) <
0,05. Đồng thời, chúng tôi cũng nhận thấy có sự tương đồng về kết quả xác định đột biến JAK2 V617F giữa ddPCR và phương pháp định tính PCR đặc hiệu alllele (ASO-PCR). Ngoài ra, kết quả ngoại kiểm xác định tình trạng đột biến JAK2 V617F với mẫu được gửi từ Trung tâm đánh giá chất lượng ngoại kiểm Anh quốc (UK NEQAS) cũng cho thấy có sự phù hợp và hoàn toàn tương đồng giữa kết quả của chúng tôi và UK NEQAS với chỉ số z-score ≤ 0,5. Kết luận: Chúng tôi đã thiết lập thành công kỹ thuật ddPCR để xác định tỷ lệ đột biến JAK2V617F ở những bệnh nhân MPN được chẩn đoán và điều trị tại BVTMHH với độ nhạy, độ chính xác và độ tái lặp cao.We initially quantify the JAK2 V617F mutation by droplet digital PCR (ddPCR) technique for diagnosis and monitoring treatment in proliferative myeloid syndromes (MPN) patients with JAK2 V617F mutation. Method: A case series, retrospective study and evaluation new technique. In this study, we evaluated the accuracy, sensitivity and reproducibility of quantification of the JAK2 V617F mutation by ddPCR technique. Then, this technique was used to determine the ratio of JAK2 V617F mutation in the control samples and MPN patient samples diagnosed and treated at the Blood Transfusion Hematology Hospital (BTH). Results: We determined the ratio of JAK2 V617F mutation in the control samples as well as in the MPN patient samples diagnosed and treated at the BTH with high sensitivity, accuracy and reproducibility with the coefficient of variation (CV) <
0.05. Furthermore, we also found a similarity in the results of JAK2 V617F mutation identification between ddPCR and ASO-PCR method. In addition, the external test results of the JAK2 V617F mutation identification with samples from UK NEQAS show that our results are completely matched and highly equivalent with the results of UK NEQAS with z-score ≤ 0.5. Conclusions: We have successfully established ddPCR technique to determine the ratio of JAK2 V617F mutation in MPN patients diagnosed and treated at BTH with high sensitivity, accuracy and reproducibility.

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