Document Detail


Increased risk of grade IV neutropenia after administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14+1g>a mutation.
MedLine Citation:
PMID:  12209976     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Dihydropyrimidine dehydrogenase (DPD) is the initial and rate-limiting enzyme in the catabolism of 5-fluorouracil (5-FU), and it is suggested that patients with a partial deficiency of this enzyme are at risk of developing severe 5-FU-associated toxicity. We evaluated the importance of DPD deficiency, gender and the presence of the IVS14+1G>A mutation in the etiology of 5-FU toxicity. In 61% of cases, decreased DPD activity could be detected in peripheral blood mononuclear cells. Furthermore, the number of females (65%) in the total group of patients appeared to be higher than the number of males (35%) (p = 0.03). Patients with partial DPD deficiency appeared to have a 3.4-fold higher risk of developing grade IV neutropenia than patients with normal DPD activity. Analysis of the DPYD gene of patients suffering from grade IV neutropenia for the presence of the IVS14+1G>A mutation showed that 50% of the patients investigated were heterozygous or homozygous for the IVS14+1G>A mutation. Adopting a threshold level for DPD activity of 70% of that observed in the normal population, 14% of the population is prone to the development of severe 5-FU-associated toxicity. Below this threshold level, 90% of individuals heterozygous for a mutation in the DPYD gene can be identified. Considering the common use of 5-FU in the treatment of cancer, the severe 5-FU-related toxicities in patients with low DPD activity and the apparently high prevalence of the IVS14+1G>A mutation, screening of patients at risk before administration of 5-FU is warranted.
Authors:
André B P Van Kuilenburg; Rutger Meinsma; Lida Zoetekouw; Albert H Van Gennip
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of cancer. Journal international du cancer     Volume:  101     ISSN:  0020-7136     ISO Abbreviation:  Int. J. Cancer     Publication Date:  2002 Sep 
Date Detail:
Created Date:  2002-09-04     Completed Date:  2002-09-26     Revised Date:  2007-07-24    
Medline Journal Info:
Nlm Unique ID:  0042124     Medline TA:  Int J Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  253-8     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Emma Children's Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, the Netherlands. a.b.vanKuilenburg@amc.uva.nl
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Antimetabolites, Antineoplastic / adverse effects*
Dihydrouracil Dehydrogenase (NADP)
Exons / genetics
Female
Fluorouracil / adverse effects*
Gene Frequency
Genotype
Granulocytes / enzymology
Humans
Leukocytes, Mononuclear / enzymology
Male
Middle Aged
Mutation / genetics*
Neoplasm Staging
Neoplasms / drug therapy,  enzymology*,  genetics
Neutropenia / chemically induced*
Oxidoreductases / deficiency*,  genetics*
Polymorphism, Restriction Fragment Length
RNA Splice Sites / genetics*
Risk Factors
Chemical
Reg. No./Substance:
0/Antimetabolites, Antineoplastic; 0/RNA Splice Sites; 51-21-8/Fluorouracil; EC 1.-/Oxidoreductases; EC 1.3.1.2/Dihydrouracil Dehydrogenase (NADP)

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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