NUDT15 R139C variation increase the risk of mercaptopurine induced toxicity in Syrian subject: A case report

Authors

  • Muhammad Muhammad master degree
  • Maher Saifo

Keywords:

NUDT15, mercaptopurine, hematopoietic toxicity, , acute lymphoblastic leukemia

Abstract

Background & Aim: Mercaptopurine (6MP) is a cornerstone in treatment of acute lymphoblastic leukemia (ALL) patients especially in maintenance therapy.

Aim: The aim of this case to clarify the reasons for severe myelosuppression in a patient with ALL that received consolidation and maintenance therapy. The present case performed patient NUDT15 testing with PCR technique.

Results: The results revealed that the patient was homozygous carrier (415C>T) for rs116855232 (NUDT15). The patient just received (4.99%) of the recommended dose. The homozygous mutant (TT genotype) of NUDT15 may cause hematopoietic toxicity with low doses of 6MP.

Conclusion: NUDT15 genotyping should therefore be performed prior to the administration of thiopurine, to personalize the treatment in ALL patients.

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Published

2022-10-07

Issue

Vol. 38 No. 3 (2022): Damascus University Journal of Medical Sciences

Section

المقالات

How to Cite

NUDT15 R139C variation increase the risk of mercaptopurine induced toxicity in Syrian subject: A case report. (2022). Damascus University Journal for Medical Sciences, 38(3). https://journal.damascusuniversity.edu.sy/index.php/heaj/article/view/2455