RESUMEN
BACKGROUND AND AIM: Despite recent major advances in leukemia research, the etiopathogenesis of childhood leukemias remains far elusive. Individual predisposing factors, including polymorphisms in detoxification enzymes, have been implicated in the molecular pathogenesis and heterogeneity of the disease. Genetic polymorphisms of glutathione S-transferases (GSTs) that alter enzyme activity could be an additional factor that increases the risk of acute leukemia, but data are lacking in Argentina. We assessed the association of GST polymorphisms and the susceptibility to childhood leukemia in Argentina by conducting an exploratory case-control study and correlated patients' genotype to clinical and biological features. METHODS: Deletion polymorphisms in GSTM1 and GSTT1 genes and the single nucleotide polymorphism in GSTP1 c.313A>G (rs1695; p.105Ile>Val) were genotyped by PCR-RFLP in 36 patients and 133 healthy individuals. RESULTS: GSTM1-null genotype was associated with a lower risk of developing acute leukemia (P = 0.013; OR: 0.31; CI: 0.12-0.80), while GSTP1-GG variants displayed an increased risk (P = 0.01; OR: 3.9; CI: 1.85-8.2). However, no differences were found for GSTT1 gene. Conclusion These preliminary results, to be validated in a larger population from Argentina, suggest that the development of pediatric leukemia may be differentially influenced by polymorphic variants in GST genes.
Asunto(s)
Gutatión-S-Transferasa pi/genética , Glutatión Transferasa/genética , Leucemia Mieloide Aguda/genética , Polimorfismo Genético , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Adolescente , Argentina , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Expresión Génica , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/patología , Masculino , Mutación , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Leucemia-Linfoma Linfoblástico de Células Precursoras/patología , Factores de RiesgoRESUMEN
INTRODUCTION: Basal cell carcinoma accounts for 75% of all nonmelanoma skin cancer. Although various treatment modalities are available, the most frequently used option is surgical excision. Here, we evaluate the efficacy of Mohs micrographic surgery for the treatment of basal cell carcinoma. MATERIAL AND METHODS: A retrospective review of cases of basal cell carcinoma treated with Mohs micrographic surgery between October 2003 and June 2009 was performed using patient records from Hospital Italiano in Buenos Aires, Argentina. RESULTS: A total of 2412 basal cell carcinomas treated with Mohs micrographic surgery were identified; 50.5% were in women and 49.5% in men. The mean age of the patients was 70.7 years (range, 8-100 years). The histologic type of the tumor was solid in 65.3% of cases and in 89% of cases the tumor was located on the head or neck. Ten percent of the tumors were recurrent following previous treatment. A mean of 1.74 Mohs stages were used, with a mean of 3.81 sections. The mean size of the initial defect was 0.86 cm² and the mean final defect was 1.88 cm². The ratio of initial tumor size to final defect was estimated at 1.02. Over a mean follow-up of 32 months, there were 9 cases of tumor recurrence (0.37%). CONCLUSIONS: In our experience, Mohs micrographic surgery is effective for the treatment of high-risk basal cell carcinoma.