title: Chemotherapy-induced unconjugated hyperbilirubinemia caused by a mutation of the bilirubin uridine-5'-diphosphate-glucuronosyltransferase gene.
abstract: Chemotherapy for malignant neoplasms sometimes causes unconjugated hyperbilirubinemia in the absence of liver dysfunction. We analyzed the association of chemotherapy-induced hyperbilirubinemia with mutations of the bilirubin uridine-5'-diphosphate (UDP)-glucuronosyltransferase gene (UGT1A1) from two leukemic patients in whom chemotherapy resulted in a hyperbilirubinemic response. We isolated genomic DNA from peripheral blood samples and amplified UGT1A1 by polymerase chain reaction. The amplified DNA fragments were analyzed by direct sequencing. The genes of the two patients revealed an identical heterozygous missense mutation in exon 1 (211G-->A: G71R). This UGT1A1 mutation may be the basis of chemotherapy-induced unconjugated hyperbilirubinemia.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan. maruo@bellebsd.shiga-med.ac.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Maruo
authors.forename: H
authors.initials: H
authors.lastname: Sato
authors.forename: N
authors.initials: N
authors.lastname: Bamba
authors.forename: M
authors.initials: M
authors.lastname: Iwai
authors.forename: H
authors.initials: H
authors.lastname: Sawa
authors.forename: H
authors.initials: H
authors.lastname: Fujino
authors.forename: T
authors.initials: T
authors.lastname: Taga
authors.forename: S
authors.initials: S
authors.lastname: Ota
authors.forename: M
authors.initials: M
authors.lastname: Shimada
mesh_terms: D000293:Adolescent; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects*; D002648:Child; D005260:Female; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000139:chemically induced* / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy*; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy*
chemical_list: D014453:Glucuronosyltransferase