| Autor: |
Laura Elena Pineda-Lancheros, María del Mar Sánchez-Suárez, Luciana María Marangoni-Iglecias, Ricardo García-Fumero, Susana Rojo-Tolosa, Noelia Moreno-Toro |
| Jazyk: |
English<br />Spanish; Castilian |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Ars Pharmaceutica, Vol 64, Iss 3, Pp 286-291 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2340-9894 |
| DOI: |
10.30827/ars.v64i3.27769 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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