Genetic variants found in paediatric oncology patients with severe chemotherapy-induced toxicity: A case series

E C Bernsen, L M Hanff, L M Haveman, Bbj Tops, M van der Lee, J J Swen, Adr Huitema, Mhm Diekstra

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review


Paediatric oncology patients who develop severe chemotherapy-induced toxicity that requires dose reduction, delay or termination of treatment are at risk of decreased treatment efficacy. Previous research has provided evidence that genetic variants in TPMT, NUDT15, UGT1A1 and DPYD are associated with toxicity of anticancer drugs. This led to pharmacogenetic guidelines that are integrated into clinical practice in paediatric oncology. Recently, novel genetic variants have been associated with a higher risk of developing chemotherapy-induced toxicity. In this case series, we selected 21 novel variants and genotyped these in nine patients with excessive chemotherapy-induced toxicity using whole exome sequencing or micro-array data. We observed that six out of nine patients carried at least one variant that, according to recent studies, potentially increased the risk of developing methotrexate- or vincristine-induced toxicity. As patient-derived genetic data are becoming widely accessible in paediatric oncology, these variants could potentially enter clinical practice to mitigate chemotherapy-induced toxicity.

Originele taal-2Engels
Pagina's (van-tot)1237-1245
Aantal pagina's9
TijdschriftJournal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
Nummer van het tijdschrift5
StatusGepubliceerd - jan. 2023


  • Paediatric oncology
  • chemotherapy
  • pharmacogenomics
  • precision medicine
  • toxicity


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