Khảo sát bất thường nhiễm sắc thể 14Q32 trên người bệnh đa u tủy bằng kỹ thuật FISH tại bệnh viện Truyền máu Huyết học TP.HCM=Detection of chromosomal 14Q32 abnormalities in multiple myeloma using FISH technique at Blood Transfusion and Hematology hospital

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Tác giả: Sỹ Luân Cao, Nguyễn Kim Dung Lê, Thị Xinh Phan, Thế Vinh Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.461-468

Bộ sưu tập: Metadata

ID: 478306

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Khảo sát bất thường nhiễm sắc thể (NST) 14q32 trên người bệnh đa u tủy (ĐUT) bằng kỹ thuật lai tại chỗ phát huỳnh quang (FISH). Đối tượng và phương pháp: Ứng dụng kỹ thuật FISH với các đoạn dò gắn chất phát huỳnh quang màu xanh, màu cam và đỏ phủ tại các vùng tương ứng trên các NST 4, 6, 11, 14, 16, 20 để phát hiện những bất thường liên quan NST 14q32. Kết quả: Chúng tôi khảo sát bất thường NST trên 107 người bệnh ĐUT bằng kỹ thuật FISH với 5 loại đoạn dò khác nhau đã xác định 80,4% có các bất thường liên quan NST 14q32 và các NST khác. Trong đó, có 61,7% có bất thường liên quan NST 14q32 và 18,7% chỉ có bất thường NST khác. Đối với bất thường cấu trúc NST 14q32 thì 33,7% là có chuyển vị của NST 14 với các NST khác. Chúng tôi chưa phát hiện trường hợp nào có chuyển vị t(14
20). Còn với bất thường số lượng NST 14q32, chúng tôi ghi nhận có 28% trường hợp gồm 25,2% thêm đoạn NST với 3 tín hiệu NST 14q32 và 2,8% mất đoạn NST 14q32. Kết luận: Chúng tôi đã xác định có 80,4% trường hợp có các bất thường về cấu trúc và số lượng liên quan NST 14 và các NST khác như 4, 6, 11, 16 và 20. Trong đó, b ất thường về cấu trúc và số lượng NST 14q32 lần lượt là 33,7% và 28%.To detect 14q32 chromosome abnormalities in multiple myeloma (MM) patients using fluorescence in situ hybridization (FISH) technique. Subjects and methods: Applying FISH technique with types of blue, orange and red fluorescent probes coated in corresponding regions on chromosomes 4, 6, 11, 14, 16, 20 to detect abnormalities of chromosome 14q32. Results: We analyzed chromosomal abnormalities in 107 people with MM using FISH technique with 5 different types of probes and identified 80.4% patients with abnormalities of chromosome 14q32 and other chromosomes. Of these, 61.7% cases had abnormalities of chromosome 14q32 and 18.7% cases had only other chromosome abnormalities. In structural abnormalities of chromosome 14q32, we found 33.7% cases having a translocation of chromosome 14 with other chromosomes. We have not detected any cases with t(14
20) translocation. With abnormalities in the number of chromosomal 14q32, we detected 28% of cases, including 25.2% cases of trisomies of certain chromosomes with 3 signals of chromosome 14q32 and 2.8% cases of hypodiploid chromosome 14q32. Conclusion: We have determined that 80.4% of cases have structural and quantitative abnormalities of chromosome 14 and other chromosomes such as 4, 6, 11, 16 and 20. Among them, abnormalities in structure and number of chromosomal 14q32 are 33.7% and 28% of cases, respectively.

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