In:
Ars Pharmaceutica (Internet), Editorial de la Universidad de Granada, Vol. 64, No. 3 ( 2023-06-20), p. 286-291
Abstract:
A 6-year-old girl diagnosed with intermediate-risk acute lymphoblastic leukemia (ALL) presented with severe myelotoxicity and multiple infections during phase IB induction treatment with 6-mercaptopurine (6-MP). In the subsequent treatment phases, which included 6-MP, the patient continued to show bone marrow aplasia and neutropenia, necessitating numerous dose adjustments and interruptions. The recommended dose was eventually reduced to 5 %. A pharmacogenetic analysis, conducted in induction phase IB, detected three single-nucleotide polymorphisms (SNPs) of the thiopurine S-methyltransferase (TPMT) gene, and the phenotype of a normal metabolizer was observed. As a result of a second pharmacogenetic analysis, pathological polymorphisms were revealed in Nudix hydrolase 15 (NUDT15), which may explain the patient’s myelotoxicity. Hence, a pharmacogenetic analysis performed in advance would have been able to prevent her from suffering severe toxicity and/or treatment failure.
Type of Medium:
Online Resource
ISSN:
2340-9894
,
0004-2927
DOI:
10.30827/ars.v64i3.27769
Language:
Unknown
Publisher:
Editorial de la Universidad de Granada
Publication Date:
2023
detail.hit.zdb_id:
2399907-X
SSG:
15,3
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