HB - Anatomia Patológica
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- ABCA 3 mutation on a Portuguese female infant with respiratory distress syndrome (RDS): a case-reportPublication . Ferreira, M; Gonçalves, JP; Cruz, M; Silva, AI; Teixeira, M; Pardal, F
- Adenomiomatose Vesícula BiliarPublication . Cruz, M
- Analysis of EGFR overexpression, EGFR gene amplification and the EGFRvIII mutation in Portuguese high-grade gliomasPublication . Viana-Pereira, M; Lopes, JM; Little, S; Milanezi, F; Basto, D; Pardal, F; Jones, C; Reis, RMBACKGROUND: Patients with malignant gliomas do not respond to any current therapy. Epidermal growth factor receptor (EGFR) controls several oncogenic processes, being frequently up-regulated in gliomas due to overexpression, gene amplification and gene mutation. EGFR inhibitors are being tried in gliomas, yet the molecular determinants of therapeutic response are unclear. MATERIALS AND METHODS: EGFR overexpression, EGFRvIII mutation and EGFR amplification were determined by immunohistochemistry and chromogenic in situ hybridization (CISH) in 27 primary glioblastomas (GBM), 24 anaplastic oligodendrogliomas (AO) and four anaplastic oligoastrocytomas (AOA). RESULTS: EGFR overexpression was associated with EGFR amplification, being found in 48% and 53% GBM, 33% and 40% AO and 75% and 67% AOA, respectively. EGFRvIII was found in 22% GBM, 8% AO and was absent in AOA. No association was observed between EGFR alterations and patient survival. CONCLUSION: We characterized, for the first time, EGFR molecular alterations in Portuguese patients with malignant glioma and identified a subpopulation of patients presenting putative biomarkers for EGFR-based therapies.
- Association between functional EGF+61 polymorphism and glioma riskPublication . Costa, BM; Ferreira, P; Costa, S; Canedo, P; Oliveira, P; Silva, AI; Pardal, F; Suriano, G; Machado, JC; Lopes, JM; Reis, RMPURPOSE: Epidermal growth factor (EGF) plays a critical role in cancer. A polymorphism in the EGF gene (EGF+61) may influence its expression and contribute to cancer predisposition and aggressiveness. In the present study, we aimed to elucidate the role of EGF+61 in glioma susceptibility and prognosis. EXPERIMENTAL DESIGN: A case-control study involving 197 glioma patients and 570 controls was done. Univariate and multivariate logistic regression analyses were used to calculate odds ratio (OR) and 95% confidence intervals (95% CI). False-positive report probability was also assessed. The luciferase reporter gene assay was used to ascertain the functional consequences of this polymorphism. RESULTS: Corroborating the univariate analysis, the multivariate model showed that the G allele conferred higher risks for gliomas (OR, 1.32; 95% CI, 1.04-1.67), glioblastomas (OR, 1.47; 95% CI, 1.02-2.10), and oligodendrogliomas (OR, 1.55; 95% CI, 1.07-2.23). The GG genotypes were associated with increased risk for gliomas (OR, 1.71; 95% CI, 1.07-2.73), glioblastomas (OR, 2.03; 95% CI, 1.02-4.05), and oligodendrogliomas (OR, 2.72; 95% CI, 1.18-6.28). In addition, the AG+GG genotypes were associated with higher risk for gliomas (OR, 1.52; 95% CI, 1.03-2.23) and oligodendrogliomas (OR, 2.80; 95% CI, 1.35-5.79). No significant association was observed between the EGF+61 polymorphism and glioblastoma or oligodendroglioma patients' overall survival. The luciferase reporter gene assay exhibited a significant increased promoter activity for the G variant compared with the reference A allele. CONCLUSIONS: These findings support the role of the EGF+61 polymorphism as a susceptibility factor for development of gliomas and show its implication on EGF promoter activity.
- Association of adult mastocytosis with M541L in the transmembrane domain of KITPublication . Rocha, J; Duarte, ML; Marques, H; Torres, F; Tavares, P; Silva, A; Brito, C
- Carcinoma diferenciado multifocal da Glândula tireoidePublication . Ferreira, M; Pardal, F
- Carcinoma do Canal Auditivo Externo - Caso ClínicoPublication . Breda, M; Silva, D; Pereira, S; Miranda, D; Moreira, F; Marçal, N; Cruz, M; Dias, L
- Carcinoma metaplásico de células fusiformes com adenocarcinomaPublication . Ferreira, M; Teixeira, M
- Cisto epidermoide intracraniano com transformação maligna catorze anos após o diagnóstico inicialPublication . Ferreira, M; Silva, AI