Abstract
Objective: Germline NUDT15 variants is critical determinant of thiopurine intolerance (6-MP: 6-mercaptopurine). 6-MP is used for treatment of acute lymphoblastic leukemia (ALL), especially during maintenance therapy. NUDT15 variants were identified helping to select suitable 6-MP dose for ALL patients.
Subjects and Methods: From June 2016 to June 2017, 30 ALL patients were investigated for NUDT15 variants using direct sequencing method at the Blood Transfusion and Hematology Hospital.
Results: We found that 23 3% of the patients harbored NUDT15 variants, in which 1 patient was homozygous, 4 were heterozygous at p.R139C, and 1 patient was heterozygous at p. V18_V19insGV. In addition, 1 patient was heterozygous for NUDT15 p. V18_V19insGV in combination with p.R139C. We also detected a heterozygous for NUDT15 p.R11Q, which has not been reported before. These NUDT15 variants can occur in the same patients. The patients harboring homozygous and 2 heterozygous NUDT15 variants are more sensitive to 6-MP than other variants.
Conclusion: Results of this study help to select suitable 6-MP dose and to apply direct DNA sequencing technique for detection of NUDT15 variants in ALL.
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