XPD Lys751Gln polymorphism in the etiology and outcome of childhood acute myeloid leukemia: a Children's Oncology Group report
| Autor: | Todd A. Alonzo, Robert B. Gerbing, Stella M. Davies, Parinda A. Mehta, John P. Perentesis, Beverly J. Lange, Julie A. Ross, James Elliott, R.J. Kennedy, Tiffany A. Wilke |
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| Rok vydání: | 2005 |
| Předmět: |
Oncology
Adult Male medicine.medical_specialty Adolescent Genotype Immunology Mutation Missense Biology Malignancy Biochemistry Polymorphism Single Nucleotide Gene Frequency hemic and lymphatic diseases Internal medicine medicine Humans Genetic Testing Child neoplasms Genotyping Xeroderma Pigmentosum Group D Protein Childhood Acute Myeloid Leukemia Infant Newborn Myeloid leukemia Infant Cell Biology Hematology medicine.disease Survival Analysis Genotype frequency Treatment Outcome Leukemia Myeloid Case-Control Studies Child Preschool Acute Disease Etiology Female Nucleotide excision repair |
| Zdroj: | Blood. 107(1) |
| ISSN: | 0006-4971 |
| Popis: | Genetic polymorphisms result in interindividual variation in DNA repair capacity and may, in part, account for susceptibility of a cell to genotoxic agents and to malignancy. Polymorphisms in XPD, a member of the nucleotide excision repair pathway, have been associated with development of treatment-related acute myeloid leukemia (AML) and with poor outcome of AML in elderly patients. We hypothesized that XPD Lys751Gln polymorphism may play a role in causation of AML in children and, as shown in adults, may affect the outcome of childhood AML therapy. Genotyping of 456 children treated for de novo AML was performed at XPD exon 23. Genotype frequencies in patients were compared with healthy control subject frequencies, and patient outcomes were analyzed according to genotype. Gene frequencies in AML patients and healthy controls were similar. There were no significant differences in overall survival (P = .82), event-free survival (P = .78), treatment-related mortality (P = .43), or relapse rate (RR) (P = .92) between patients with XPD751AA versus 751AC versus 751CC genotypes, in contrast to reports in adult AML. These data, representing the only data in pediatric AML, suggest that XPD genotype does not affect the etiology or outcome of childhood AML. |
| Databáze: | OpenAIRE |
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