Mercaptopurine induced myelosuppression in a child with a NUDT15 rs116855232 homozygous variant.
J Oncol Pharm Pract
; 29(4): 999-1001, 2023 Jun.
Article
en En
| MEDLINE
| ID: mdl-36341754
ABSTRACT
INTRODUCTION:
Mercaptopurine (6-MP) is the backbone of the consolidation and maintenance therapy for paediatric acute lymphoblastic leukaemia (ALL). Nevertheless, it can cause critical myelosuppression. Predicting adverse reactions to 6-MP often involves the investigation of pharmacogenetic variants; in particular thiopurine S-methyltransferase (TPMT) and nudix hydrolase 15 (NUDT15). Lately, NUDT15 variants have been shown to play a significant pharmacogenetic role in predicting 6-MP intolerance in children of Asian descent. CASE REPORT We present a six-year-old male child of Indian origin with persistent cytopenia after treatment. This prompted targeted sequencing of the genes TPMT and NUD15. The results revealed two copies of the variant of NUD15 rs116855232, that is, NUDT15*2 genotype. MANAGEMENT ANDOUTCOME:
Since the NUDT15*2 allele classified the patient as a poor metabolizer, he was restarted on a low dose of 6-MP, which he tolerated.DISCUSSION:
Individuals with the NUDT15*2allele (*2/*2 genotype) are poor metabolizers of thiopurines which results in an adverse reaction to 6-MP. About 3.5% of Indians show variations in the TPMT gene as compared to 19.4% variations observed in NUDT15, which makes the latter a more reliable disease marker.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Leucemia-Linfoma Linfoblástico de Células Precursoras
/
Mercaptopurina
Tipo de estudio:
Prognostic_studies
Límite:
Child
/
Humans
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Male
Idioma:
En
Revista:
J Oncol Pharm Pract
Asunto de la revista:
FARMACIA
Año:
2023
Tipo del documento:
Article
País de afiliación:
India