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Deficiency of Dihydropyrimidine Dehydrogenase Associated with Fluoropyrimidine Toxicity

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— 1 min read

A study conducted in Prague, Czech Republic, discovered that a deficiency of dihydropyrimidine dehydrogenase (DPD) is linked to severe fluoropyrimidine (FP) toxicity in cancer patients. Researchers at Charles University analyzed 68 patients who experienced high-grade gastrointestinal and/or hematological toxicity after receiving FP treatment and found no evidence of large intragenic rearrangements in the DPYD gene.

Key Takeaways:

  • The study found a strong association between DPD deficiency and severe FP toxicity in cancer patients.
  • Mutations in the DPYD gene were shown to increase the risk of severe toxicity in FP-treated patients.
  • The majority of DPYD alterations in these patients were considered as polymorphisms, and only a limited subgroup of patients with high toxicity had known deleterious mutations.
  • Researchers analyzed 68 patients with high-grade gastrointestinal and/or hematological toxicity developed at the beginning of FP treatment.
  • No deletion/duplication of one or more DPYD exons was detected in the analyzed patients.
  • The study suggests that rearrangements in the DPYD gene play an insignificant role in the development of serious FP-related toxicity.

Statistics:

  • 68 patients were analyzed in the study, all of whom experienced high-grade gastrointestinal and/or hematological toxicity after FP treatment.
  • The study found no evidence of large intragenic rearrangements in the DPYD gene in the analyzed patients.
  • The majority of DPYD alterations in these patients were considered as polymorphisms (data not specified).
  • Only a limited subgroup of patients with high toxicity had known deleterious mutations (data not specified).

Sources:

  • Ticha, I., et al. "Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity." Cancer Chemotherapy and Pharmacology, vol. 64, no. 3, 2009, pp. 615-618.
  • Charles University Prague, Faculty Med 1, Institute Biochemistry & Experimental Oncology, Czech Republic.
  • Springer, 233 Spring St., New York, NY 10013, USA.

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