Homozygous mutation in NUDT15 in childhood acute lymphoblastic leukemia with increased susceptibility to mercaptopurine toxicity: A case report

  • Authors:
    • Juan Cheng
    • Hao Zhang
    • Hai‑Zhen Ma
    • Juan Li
  • View Affiliations

  • Published online on: March 26, 2019     https://doi.org/10.3892/etm.2019.7434
  • Pages: 4285-4288
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Abstract

As an essential component of consolidation and maintenance therapy for acute lymphoblastic leukemia (ALL), mercaptopurine (6‑MP) causes critical myelosuppression. The current study aimed to clarify the reasons for severe myelosuppression and significant hyperpigmentationin a patient with ALL that received consolidation therapy. The present study performed patient NUDT15 testing with fluorescence in situ hybridization and whole‑exome sequencing. The results revealed that the patient was a homozygous carrier (415C>T, TT) for rs116855232 (NUDT15). The dose of 6‑MP was adjusted down from 30%, with the patient receiving maintenance therapy at 8% of the recommended dose. The homozygous mutant (TT genotype) of NUDT15 may cause hematopoietic toxicity with low doses of 6‑MP. NUDT15 genotyping should therefore be performed prior to the administration of thiopurine, the dosage of which requires adjustment.
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May-2019
Volume 17 Issue 5

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Cheng J, Zhang H, Ma HZ and Li J: Homozygous mutation in NUDT15 in childhood acute lymphoblastic leukemia with increased susceptibility to mercaptopurine toxicity: A case report. Exp Ther Med 17: 4285-4288, 2019
APA
Cheng, J., Zhang, H., Ma, H., & Li, J. (2019). Homozygous mutation in NUDT15 in childhood acute lymphoblastic leukemia with increased susceptibility to mercaptopurine toxicity: A case report. Experimental and Therapeutic Medicine, 17, 4285-4288. https://doi.org/10.3892/etm.2019.7434
MLA
Cheng, J., Zhang, H., Ma, H., Li, J."Homozygous mutation in NUDT15 in childhood acute lymphoblastic leukemia with increased susceptibility to mercaptopurine toxicity: A case report". Experimental and Therapeutic Medicine 17.5 (2019): 4285-4288.
Chicago
Cheng, J., Zhang, H., Ma, H., Li, J."Homozygous mutation in NUDT15 in childhood acute lymphoblastic leukemia with increased susceptibility to mercaptopurine toxicity: A case report". Experimental and Therapeutic Medicine 17, no. 5 (2019): 4285-4288. https://doi.org/10.3892/etm.2019.7434