Y. Maruo et al., Chemotherapy-induced unconjugated hyperbilirubinemia caused by a mutation of the bilirubin uridine-5 '-diphosphate-glucuronosyltransferase gene, J PED H ONC, 23(1), 2001, pp. 45-47
Chemotherapy for malignant neoplasms sometimes causes unconjugated hyperbil
irubinemia 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 tw
o leukemic patients in whom chemotherapy resulted in a hyperbilirubinemic r
esponse. We isolated genomic DNA from peripheral blood samples and amplifie
d UGT1A1 by polymerase chain reaction. The amplified DNA fragments were ana
lyzed by direct sequencing. The genes of the two patients revealed an ident
ical heterozygous missense mutation in exon 1 (211G-->A: G71R). This UGT1A1
mutation may be the basis of chemotherapy-induced unconjugated hyperbiliru
binemia.