[Dihydropyrimidine dehydrogenase deficiency and toxicity to fluoropyrimidine]. 2010

M Boisdron-Celle, and A Morel, and E Gamelin
Département de biopathologie du cancer, Centre régional de lutte contre le cancer Paul Papin, CRCNA Inserm U892, Angers. m.boisdron@unimedia.fr

Dihydropyrimidine dehydrogenase (DPD) is a key enzyme in the metabolic catabolism of fluoropyrimidines, such as 5-Fluorouracil and its oral prodrugs derivatives, including capecitabine and ftorafur (UFT, S1). Numerous genetic mutations have been identified in the DPD gene locus (DPYD), with a few variants having functional consequences on enzymatic activity. The allele frequency is 5% for heterozygoty and is 0.2% for homozygoty. It is correlated to the frequency of DPD activity deficiency that has been frequently reported to cause early severe, sometimes lethal fluoropyrimidine-related adverse events, regardless of the drug. Taking in account the wide and frequent use of fluoropyrimidines, both in advanced and adjuvant settings, it is clearly a problem of public healthcare that cannot be underestimated. We review in the present article the performances of assays that assess DPD and DPYD status, with an emphasis on their respective robustness and suitability for routine clinical applications. We show that DPD deficiency can be already detected primarily to treatment in practice and this detection could avoid life-threatening fluoropyrimidines toxic-side effects.

UI MeSH Term Description Entries
D009369 Neoplasms New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms. Benign Neoplasm,Cancer,Malignant Neoplasm,Tumor,Tumors,Benign Neoplasms,Malignancy,Malignant Neoplasms,Neoplasia,Neoplasm,Neoplasms, Benign,Cancers,Malignancies,Neoplasias,Neoplasm, Benign,Neoplasm, Malignant,Neoplasms, Malignant
D011743 Pyrimidines A family of 6-membered heterocyclic compounds occurring in nature in a wide variety of forms. They include several nucleic acid constituents (CYTOSINE; THYMINE; and URACIL) and form the basic structure of the barbiturates.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000964 Antimetabolites, Antineoplastic Antimetabolites that are useful in cancer chemotherapy. Antineoplastic Antimetabolites
D042943 Dihydrouracil Dehydrogenase (NADP) An oxidoreductase involved in pyrimidine base degradation. It catalyzes the catabolism of THYMINE; URACIL and the chemotherapeutic drug, 5-FLUOROURACIL. Dihydropyrimidine Dehydrogenase,Dihydrothymine Dehydrogenase (NADP),Dehydrogenase, Dihydropyrimidine
D054067 Dihydropyrimidine Dehydrogenase Deficiency An autosomal recessive disorder affecting DIHYDROPYRIMIDINE DEHYDROGENASE and causing familial pyrimidinemia. It is characterized by thymine-uraciluria in homozygous deficient patients. Even a partial deficiency in the enzyme leaves individuals at risk for developing severe 5-FLUOROURACIL-associated toxicity. DPD Deficiency,Dihydropyrimidinuria,Familial Pyrimidemia,Familial Pyrimidinemia,Hereditary Thymine-Uraciluria,Pyrimidinemia, Familial,Thymine-Uraciluria, Hereditary,DPD Deficiencies,Deficiencies, DPD,Deficiencies, Dihydropyrimidine Dehydrogenase,Deficiency, DPD,Deficiency, Dihydropyrimidine Dehydrogenase,Dehydrogenase Deficiencies, Dihydropyrimidine,Dehydrogenase Deficiency, Dihydropyrimidine,Dihydropyrimidine Dehydrogenase Deficiencies,Dihydropyrimidinurias,Familial Pyrimidemias,Familial Pyrimidinemias,Hereditary Thymine Uraciluria,Hereditary Thymine-Uracilurias,Pyrimidemia, Familial,Pyrimidemias, Familial,Pyrimidinemias, Familial,Thymine Uraciluria, Hereditary,Thymine-Uracilurias, Hereditary

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