Mariangela Torreglosa Ruiz

Avaliação epidemiológica de pacientes com câncer de cabeça e pescoço em um hospital universitário do noroeste do estado de São Paulo

No mundo, aproximadamente 200 mil casos novos de câncer de cabeca e pescoco sao diagnosticados anualmente. Uma media de 13.470 casos novos de câncer de cavidade oral por 100 mil habitantes e observada no Brasil. OBJETIVO: Analisar os aspectos clinicos e epidemiologicos dos pacientes atendidos no Servico de Otorrinolaringologia e Cirurgia de Cabeca e Pescoco em um hospital universitario do Noroeste do Estado de Sao Paulo, Brasil. CASUISTICA E METODOS: Foram analisados os dados de 427 pacientes atendidos no periodo de 2000 a 2005. As variaveis analisadas incluiram idade, sexo, profissao, cor da pele, habitos tabagista e etilista, sitio primario de tumor, estadiamento clinico, grau de diferenciacao histologica e sobrevida. Os dados foram analisados por estatistica descritiva exploratoria. RESULTADOS: Houve predominio de homens (86%), cor da pele branca (90%), tabagistas (83,37%), etilistas (65,80%) com idade media de 61 anos, sendo que 24,25% dos homens realizavam atividades rurais e 60% das mulheres, atividades domesticas. O sitio primario de tumor mais frequente foi a cavidade oral, com o tipo histologico espinocelular. Observou-se 164 obitos. CONCLUSAO: Esse levantamento contribuiu para tracar um perfil dos pacientes atendidos no hospital e, sobretudo contribuir com os programas de prevencao para esta doenca.

Epidemiologic evaluation of head and neck patients in a university hospital of Northwestern São Paulo State

UNLABELLED Head and neck cancer accounts for nearly 200.000 new cases worldwide. A mean of 13.470 new cases of cancer in the oral cavity for 100.000 inhabitants is observed in Brazil. AIM To analyze clinical and epidemiological aspects in patients consulted in the Otorhinolaryngology and Head and Neck Surgery ward in a University hospital of Northwestern São Paulo, Brazil. MATERIALS AND METHODS A total of 427 patients consulted in the hospital in the period from 2000 to 2005 were investigated. The variables analyzed included: age, gender, occupation, skin color, tobacco and alcohol consumption, primary site of the tumor, clinical staging, degree of histological differentiation and outcome. The data was analyzed by descriptive and exploratory statistics. RESULTS Prevalence was found among men (86%), white color (90%), smokers (83.37%), and alcoholics (65.80%); the average age was 61 years, 24.25% of men were farmers and 60% of women, housekeepers. Primary site of tumor was usually in the oral cavity (35.37%), with histological squamous cell. The incidence of deaths was 164. CONCLUSION This study has provided the profile of the patients assisted in this hospital; moreover, it has contributed to outline further programs for preventing this disease.

GSTM1 and GSTT1 genes analysis in head and neck cancer patients

OBJECTIVE To establish the clinical and demographic profile and identify risk factors among patients with head and neck cancer and relate them to the polymorphism of GSTT1 and GSTM1. METHODS One hundred patients with head and neck cancer and 100 control group individuals without history of neoplasm were analyzed. . The molecular analysis were made by multiplex polymerase chain reaction. For statistical analysis, data were tabulated and compared by the Fishers exact test, the Chi-square test and multiple logistic regression were also used. RESULTS There was prevalence of smokers (OR = 5.32, CI 95% CI = 2.04-13.86 p = 0.0006), alcohol drinkers (OR = 5.04, CI 95% = 2.19-11.59 p = 0.0001) in head and neck cancer patients . The GSTT1 null genotype was found in 47% of the patient and 41% of the control group (OR = 0.67; CI 95%= 0.34-1.35; p = 0.2648). Likewise , the GSTM1 null genotype was found in 66% of the patient and 75% of the control group (OR = 2.25; CI 95%= 1.05 - 4.84; p = 0.0368). The combined GSTT1 and GSTM1 gene null genotype shown association between GSTM1 0/GSTT1 and occurrence of head and neck carcinoma (OR = 7.64; CI 95%= 1.72-34.04; p = 0.0076). Analysis of clinical-pathological features showed association between GSTT1 null genotype and larynx, the inverse relation between this genotype and pharynx. CONCLUSION In our study it was possible to establish association between GSTM1 null genotypes and head and neck cancer.

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first‐degree cousins, inbreeding F = 1/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed.

Câncer de cabeça e pescoço: polimorfismos genéticos e metabolismo do folato

UNLABELLED Epidemiological evidence suggests that genetic variants encoding enzymes involved in folate metabolism may modulate HNSCC risk by altering DNA methylation synthesis and genomic estability. AIM A review of the literature on genetic polymorphisms involved in folate metabolism and risk of head and neck cancer was carried out. METHODOLOGY An electronic search was made on the Medline database to select papers on head and neck cancer and polymorphisms involved in folate metabolism. RESULTS The association between MTHFR C677T polymorphism and the risk of this tumor type was evaluated in nine studies; there was an association with this disease in three papers. The MTR A2756G and MTRR A66G and RFC1 A80G polymorphisms were also associated with increased risk for HNSCC. MTHFD1 G1958A polymorphism was not associated with increased risk of this disease; the evaluation results of the MTHFR A1298C polymorphism in this neoplasm were contradictory. Other polymorphisms involved in folate metabolism were not studied for this neoplasm. CONCLUSION We conclude that polymorphisms involved in folate metabolism may modulate the risk of head and neck cancer, however, these results need to be demonstrated in different populations.

Polymorphism of Methylenetetrahydrofolate Reductase (MTHFR) gene and risk of Head and Neck Squamous Cell Carcinoma

UNLABELLED Methylenetetrahydrofolate reductase gene (MTHFR) C677T polymorphism may be a risk factor for head and neck squamous cell carcinoma due to changes in folate levels that can induce disorders in the methylation pathway, which results in carcinogenesis. AIM To evaluate MTHFR C677T polymorphism in patients with head and neck squamous cell carcinoma and in individuals with no history of cancer, and to assess the association of this disease with clinical histopathological parameters. SERIES AND METHODS: A retrospective study that assessed gender, age, tobacco, alcohol consumption and clinical histopathological parameters in 200 patients (100 with disease and 100 with no history of cancer). PCR-RFLP molecular analysis was carried out and the chi-square test and multiple logistic regression were applied for the statistical analysis. RESULTS There was no association between MTHFR C677T polymorphism and head and neck cancer (p = 0.50). Significant differences between the study and control groups were observed at age over 50 years, tobacco use, and male gender (p <0.001). There was no association of disease with clinical-histopathological parameters. CONCLUSION No association between the MTHFR C677T polymorphism and head and neck squamous cell carcinoma was possible in this study.

Head and neck carcinogenesis: Impact of MTHFD1 G1958A polymorphism

OBJECTIVE To investigate the MTHFD1 G1958A polymorphism involved in the folate metabolism as a risk for head and neck cancer, and to find the association of the polymorphism with the risk factors and clinical and histopathological characteristics. METHODS Retrospective study investigating MTHFD1 G1958A polymorphism in 694 subjects (240 patients in the Case Group and 454 in the Control Group) by Restriction Fragment Length Polymorphism (RFLP) Analysis. Multiple logistic regression and chi-square tests were used in the statistical analysis. RESULTS Multivariable analysis showed that smoking and age over 42 years were disease predictors (p < 0.05). MTHFD1 1958GA or AA genotypes were associated with smoking (p = 0.04) and alcoholism (p = 0.03) and were more often found in more advanced stage tumors (p = 0.04) and in patients with a shorter survival (p = 0.03). CONCLUSION The presence of MTHFD1 G1948A polymorphism associated with smoking and alcoholism raises the head and neck cancer risk.

The association between CBS 844ins68 polymorphism and head and neck squamous cell carcinoma risk - a case-control analysis.

Introduction Susceptibility to head and neck squamous cell carcinoma may be modified by functional polymorphisms in genes involved in the folate pathway, such as cystathionine beta-synthase (CBS). The CBS 844ins68 polymorphism is associated with DNA methylation changes and cancer development. Material and methods A case-control retrospective study was conducted in 322 patients with head and neck squamous cell carcinoma and in 531 control subjects without cancer. The polymerase chain reaction-restriction fragment length polymorphism technique was used to genotype the polymorphism. For statistical analysis, χ2 test was conducted to examine whether the genotypic frequency of CBS 844ins68 was in Hardy-Weinberg equilibrium and multiple logistic regression was used for comparisons between groups, and for interactions between the polymorphism and risk factors and clinical histopathological parameters. Results No significant difference in CBS 844ins68 genotypic distribution was observed between the groups. Age > 50 years, male gender and tobacco consumption were predictors of the disease with increased risk of 7.89 (95% CI: 5.56-11.21), 2.49 (95% CI: 1.72-3.62), 6.44 (95% CI: 4.63-8.96) and 2.29 times (95% CI: 1.71-3.06) respectively. There was no association between the distribution of the CBS 844ins68 genotype and risk factors for this disease. According to clinical histopathological parameters, CBS 884ins68 polymorphism presented high frequency in oral cavity (p < 0.05) and patients with the polymorphism presented less survival time (p < 0.05). Conclusions We concluded that the CBS 844ins68 polymorphism is not associated with HNSCC risk and there is increased risk of this disease in male gender individuals smokers aged over 50 years. In adittion, the polymorphism is more frequent in patients with oral cavity as primary site and in patients with less survival time.

Carcinogênese de cabeça e pescoço: impacto do polimorfismo MTHFD1 G1958A

OBJECTIVE: To investigate the MTHFD1 G1958A polymorphism involved in the folate metabolism as a risk for head and neck cancer, and to find the association of the polymorphism with the risk factors and clinical and histopathological characteristics. METHODS: Retrospective study investigating MTHFD1 G1958A polymorphism in 694 subjects (240 patients in the Case Group and 454 in the Control Group) by Restriction Fragment Length Polymorphism (RFLP) Analysis. Multiple logistic regression and chi-square tests were used in the statistical analysis. RESULTS: Multivariable analysis showed that smoking and age over 42 years were disease predictors (p < 0.05). MTHFD1 1958GA or AA genotypes were associated with smoking (p = 0.04) and alcoholism (p = 0.03) and were more often found in more advanced stage tumors (p = 0.04) and in patients with a shorter survival (p = 0.03). CONCLUSION: The presence of MTHFD1 G1948A polymorphism associated with smoking and alcoholism raises the head and neck cancer risk.

Analysis of the TAX1BP1 gene in head and neck cancer patients

UNLABELLED In Brazil, there were 14,160 new estimated cases of head and neck cancer for the year of 2008. Smoking and drinking are the main risk factors established in the etiology of this disease. AIM To assess the T --> A polymorphism in gene TAX1BP1 (leu306ile) in patients with head and neck cancer and a control population. SERIES AND METHODS: A retrospective study in which we assessed the gender, age, smoking and drinking habits of 191 patients with head and neck cancer and 200 individuals without history of neoplasia. The molecular analysis was carried out after genomic DNA extraction by the PCR-RFLP method. RESULTS There is a predominance of males (84.82%), smokers (91.1%) and drinkers of alcohol (77.49%). Molecular assessment did not show statistically significant differences between the two groups (p =0.32). The analysis of clinical parameters and polymorphisms showed association with oral cavity cancer (OR: 2.38; CI 95%: 1.18-4.78; p = 0.01), the other parameters were not associated with the polymorphism. CONCLUSION There is evidence of association between TAX1BP1 gene polymorphism and oral cavity cancer. For the remaining parameters analyzed, the results do not suggest association with the TAX1BP1 gene polymorphism.