Human Epidermal Growth Factor Receptor-2 gene polymorphism and breast cancer risk in women from the Northeastern region of Brazil

OBJECTIVES: In the Human Epidermal Growth Factor Receptor-2 (HER2) rs1136201 variant, the presence of the G allele may promote cellular alterations and increase breast cancer risk, in addition to enhanced cellular proliferation, tumor aggressiveness, and metastases. The aim of this study was to investigate the presence of the single-nucleotide polymorphism (SNP) variant, rs1136201, within the HER2 gene in women from the Northeastern region of Brazil and breast cancer risk. METHODS: The study included 140 women who were divided into two groups, case (breast cancer) and control (without breast cancer), with 70 women in each group. Peripheral blood of each woman was drawn for the study of genomic Deoxyribonucleic acid (DNA) extracted from leukocytes using the genotyping technique by real-time polymerase chain reaction. RESULTS: The GG genotype occurred in 1 woman in both groups (1.4%) (p=0.32), while the AG genotype occurred in 19 (27.2%) and 13 (18.6%) women in the case and control (p=1.00) groups, respectively. No statistically significant difference in GG and AG genotypes was observed between the case and control groups in premenopausal women (p=1.00). Furthermore, no significant difference in genotypes was observed between the groups, among postmenopausal women (p=0.14). CONCLUSION: In this study, the HER2 rs1136201 polymorphism did not show any statistically significant association with breast cancer, both in premenopausal and postmenopausal women. Nevertheless, further studies with a larger sample size should be performed to assess the association of HER2 polymorphism with breast cancer risk in women from the Northeastern region of Brazil.

Evaluation of KI-67 expression in uterine leiomyoma and in healthy myometrium: a pilot study

SUMMARY OBJECTIVE Evaluate the expression of KI-67 in uterine leiomyomas and adjacent myometrial tissue and verify the existence of a correlation between clinical parameters and KI-67 expression in tumors. METHODS This is a cross-sectional, controlled, analytical study. Samples of leiomyomas and myometrium were obtained from patients who underwent hysterectomy. The samples were processed by immunohistochemistry using KI-67 antibody, and the expression was evaluated by two blinded observers. Student›s T-test was used for comparison of means, and Pearson›s P test for correlation with clinical parameters. RESULTS A total of 9 patients were included in the study. The mean age was 40.7 years, ranging from 35 to 44 years. The mean expression of KI-67 in myometrium was 1.63%, and, in leiomyomas, 5.96% (p <0.001). The highest expression of KI-67 was moderately related to the severity of anemia, bleeding, and pain level. CONCLUSION The expression of KI-67 in normal myometrium was significantly lower than in leiomyomas. The highest expression of KI-67 was moderately related to the severity of anemia, bleeding, and pain level in the patients of this study.

RESUMO OBJETIVO Avaliar a expressão do KI-67 em leiomiomas uterinos e tecido miometrial adjacente e verificar a existência de correlação entre parâmetros clínicos e expressão do KI-67 em tumores. MÉTODOS Estudo transversal, controlado e analítico. Amostras de leiomiomas e miométrio foram obtidas de pacientes que realizaram histerectomia. As amostras foram processadas por imuno-histoquímica utilizando anticorpo para KI-67 e a expressão avaliada por dois observadores cegos. O teste t de Student foi utilizado para comparação de médias e o teste P de Pearson para correlação com parâmetros clínicos. RESULTADOS Um total de 9 pacientes foi incluído no estudo. A idade média foi de 40,7 anos, variando de 35 a 44 anos. A expressão média do KI-67 no miométrio foi de 1,63% e nos leiomiomas de 5,96% (p <0,001). A maior expressão do KI-67 foi moderadamente relacionada com a gravidade da anemia, sangramento e nível de dor. CONCLUSÃO A expressão do KI-67 no miométrio normal foi significativamente menor que nos leiomiomas. A maior expressão do KI-67 foi moderadamente relacionada à gravidade da anemia, sangramento e nível de dor nos pacientes deste estudo.

Aggressive angiomyxoma of the vulva: case report / Angiomixoma agressivo da vulva: relato de caso

Female patient, 42-years-old, complaining of difficulty in urinating and swelling in the vulvar area for one year. Her gynecological examination showed extensive injury in the vulvar region and the biopsy done was inconclusive. The removal of the lesion was conducted. After the procedure, the patient remains free of recurrence for 15 months. This case highlights the need to consider angiomyxoma in the differential diagnosis for tumors of unknown cause in the vulvar region.

Paciente do gênero feminino, 42 anos, com queixas de dificuldade ao urinar e aumento de volume na região vulvar há 1 ano. Ao exame ginecológico, apresentava extensa lesão na região vulvar. Biópsia da lesão foi inconclusiva. Realizou-se a exérese da lesão. A paciente permanece livre de recorrências há 15 meses. Este caso destaca a necessidade de considerar o angiomixoma no diagnóstico diferencial de massas de causa desconhecida na região vulvar.