title: [Severe 5-fluorouracil toxicity in a woman treated for breast cancer with concurrent osteogenesis imperfecta and dehydrogenase deficiency].
abstract: Dihydropyrimidine dehydrogenase (DPD) is the principal enzyme involved in the catabolism of 5 fluorouracil (5 FU). The clinical importance of DPD has recently been demonstrated wit the identification of rare cases presenting a severe toxicity to 5 FU related to proven DPD deficiency. We report a new case in a patient with concurrent congenital osteogenesis imperfecta. We were surprised to find another similar association reported by Lyss. It is tempting to speculate that DPD activity may be abnormally regulated in osteogenesis imperfecta patients.
authors.affiliation: Service d'oncologie médicale, Institut Curie, Paris, France.
authors.forename: P
authors.initials: P
authors.lastname: Beuzeboc
authors.forename: J Y
authors.initials: JY
authors.lastname: Pierga
authors.forename: D S
authors.initials: DS
authors.lastname: Lyonnet
authors.forename: J
authors.initials: J
authors.lastname: Couturier
authors.forename: P
authors.initials: P
authors.lastname: Pouillart
mesh_terms: D000741:Anemia, Aplastic / Q000139:chemically induced; D000964:Antimetabolites, Antineoplastic / Q000009:adverse effects* / Q000378:metabolism; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001943:Breast Neoplasms / Q000150:complications / Q000188:drug therapy* / Q000201:enzymology; D017024:Chemotherapy, Adjuvant; D003520:Cyclophosphamide / Q000008:administration & dosage; D042943:Dihydrouracil Dehydrogenase (NADP); D005260:Female; D005472:Fluorouracil / Q000009:adverse effects* / Q000378:metabolism; D006801:Humans; D007970:Leukopenia / Q000139:chemically induced; D008875:Middle Aged; D008942:Mitoxantrone / Q000008:administration & dosage; D010013:Osteogenesis Imperfecta / Q000150:complications*; D010088:Oxidoreductases / Q000172:deficiency*; D013921:Thrombocytopenia / Q000139:chemically induced
chemical_list: D000964:Antimetabolites, Antineoplastic; D003520:Cyclophosphamide; D008942:Mitoxantrone; D010088:Oxidoreductases; D042943:Dihydrouracil Dehydrogenase (NADP); D005472:Fluorouracil
vernacular_title: Toxicité sévère au 5-fluorouracile chez une femme traitée pour un cancer du sein, présentant une ostéogenèse imparfaite et un déficit en dihydropyrimidine déhydrogénase.