ỨNG DỤNG GIẢI TRÌNH TỰ THÉ HỆ MỚI ĐẺ PHÂN TÍCH ĐỌT BIÉN GEN TRONG HỘI CHỨNG ROI LOẠN SINH TUY

Abstract

Objectives: Identification of the causative mutation using next-generation sequencing in myelodysplastic syndromes patients. Methods: 9 MDS patients have been diagnosed and treated in National Institute of Hematology and Blood Transfusion. In this study, we performed next-generation sequencing for detection of mutations in genes related to MDS. Results: In this report four known MDS related genes were screened by next-generation sequencing in nine
patients. Three nonsense mutations in TET2 (c.1720C>T, c.4393C>T and c.4824T>A); one frameshift mutation in ASXL1 (c.1681_1682insT); one missense mutation (c.1585G>A) and two frameshift mutations (c.634_637delAGGG and c.1393_1394insG) in DNMT3A were in nine MDS patients. One of the three mutations in TET2 (c.4824T>A), one mutation in ASXL1 (c.1681_1682insT), all of the three mutations in DNMТЗА (c.1585G>A, c.634_637delAGGG, c.1393_1394insG) were novel mutations. In addition, we identified two novel variants in TEТ2 (c.4538A>G, c.4540C>A), one novel variant in ASXL1 (c.3221A>C) and two novel variants DNMT3A (c.1390A>G, c.1069G>A). Mutations reported here could help clinicians and geneticists in MDS diagnosis. Conclusion: The next-generation sequencing of known MDS genes is useful for finding pathological variants for the diagnosis, follow-up, and risk stratification of MDS patients.