طفرة جينة NUDT15 R139C تزيد من خطورة تطور سمية محرضة بمركبات mercaptopurine عند مريضة سورية : تقرير حالة

الملخص EN

Background and 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.