RESUMO
Retinoblastoma is the most frequent intra-ocular malignant tumor of the childhood, occurring in 1 of 18,000-30,000 live births. Little is known about the causes of sporadic retinoblastoma and only a few authors have investigated the etiologic role of human papillomavirus (HPV), with controversial results. Formalin-fixed, paraffin-embedded tissue blocks containing retinoblastoma were retrieved from the archives of the Department of Pathology at Hospital A C Camargo, São Paulo, Brazil. All patients were treated with enucleation (21 children had both eyes enucleated). Retinoblastoma and, when possible, normal retina of each specimen, were micro-dissected under direct light microscopic visualization by using a PixCell II Laser Capture Micro-dissection System. The DNA quality was evaluated by polymerase chain reaction (PCR) amplification of 110 base pairs fragment of the human ß-globin gene using primers PCO3+/PCO4+. All globin positive specimens were analyzed by PCR for the presence of HPV DNA using consensus primers GP5+/GP6+. A total of 154 specimens were evaluated. Forty-four patients also had normal retinal specimens available for analysis of DNA HPV. The DNA HPV prevalence among all tumor specimens was 4.6% (95% CI 2.0; 8.8) (7 positive specimens/153 adequate specimens). Among normal retinal specimens, the DNA HPV prevalence was 9.1% (95% CI 2.9; 20.5) (4 positive specimens/44 specimens). There was no statistically significant difference between these rates (P = 0.318). Excluding any experimental failure, our results indicate a low prevalence of HPV DNA in retinoblastomas. We were therefore unable to conclude about the association between these oncogenic viruses and this rare pediatric neoplasm.
Assuntos
Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/epidemiologia , Retinoblastoma/complicações , Retinoblastoma/virologia , Brasil/epidemiologia , Criança , Pré-Escolar , Primers do DNA/genética , DNA Viral/genética , DNA Viral/isolamento & purificação , Feminino , Humanos , Lactente , Masculino , Infecções por Papillomavirus/virologia , Patologia Molecular/métodos , Reação em Cadeia da Polimerase/métodos , PrevalênciaRESUMO
Retinoblastoma is the most frequent intra-ocular malignant tumor of the childhood, occurring in 1 of 18,00030,000 live births. Little is known about the causes of sporadic retinoblastoma and only a few authors have investigated the etiologic role of human papillomavirus (HPV), with controversial results. Formalin-fixed, paraffin-embedded tissue blocks containing retinoblastoma were retrieved from the archives of the Department of Pathology at Hospital A C Camargo, São Paulo, Brazil. All patients were treated with enucleation (21 children had both eyes enucleated). Retinoblastoma and, when possible, normal retina of each specimen, were micro-dissected under direct light microscopic visualization by using a PixCell II Laser Capture Micro-dissection System. The DNA quality was evaluated by polymerase chain reaction (PCR) amplification of 110 base pairs fragment of the human β-globin gene using primers PCO3 +/PCO4+. All globin positive specimens were analyzed by PCR for the presence of HPV DNA using consensus primers GP5+/GP6+. A total of 154 specimens were evaluated. Forty-four patients also had normal retinal specimens available for analysis of DNA HPV. The DNA HPV prevalence among all tumor specimens was 4.6% (95% CI 2.0; 8.8) (7 positive specimens/153 adequate specimens). Among normal retinal specimens, the DNA HPV prevalence was 9.1% (95% CI 2.9; 20.5) (4 positive specimens/44 specimens). There was no statistically significant difference between these rates (P = 0.318). Excluding any experimental failure, our results indicate a low prevalence of HPV DNA in retinoblastomas. We were therefore unable to conclude about the association between these oncogenic viruses and this rare pediatric neoplasm
Assuntos
Masculino , Feminino , Humanos , Lactente , Pré-Escolar , Criança , Brasil/epidemiologia , Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/virologia , Patologia Molecular/métodos , Retinoblastoma/complicações , Retinoblastoma/virologia , Primers do DNA , Prevalência , Reação em Cadeia da Polimerase/métodosRESUMO
Wilms tumor (WT), a tumor composed of three histological components - blastema (BL), epithelia and stroma - is considered an appropriate model system to study the biological relationship between differentiation and tumorigenesis. To investigate molecular associations between nephrogenesis and WT, the gene expression pattern of individual cellular components was analyzed, using a customized platform containing 4,608 genes. WT gene expression patterns were compared to genes regulated during kidney differentiation. BL had a closer gene expression pattern to the earliest stage of normal renal development. The BL gene expression pattern was compared to that of fetal kidney (FK) and also between FK and mature kidney, identifying 25 common deregulated genes supposedly involved in the earliest events of WT onset. Quantitative RT-PCR was performed, confirming the difference in expression levels for 13 of 16 genes (81.2%) in the initial set and 8 of 13 (61.5%) in an independent set of samples. An overrepresentation of genes belonging to the Wnt signaling pathway was identified, namely PLCG2, ROCK2 and adenomatous polyposis coli (APC). Activation of the Wnt pathway was confirmed in WT, using APC at protein level and PLCG2 at mRNA and protein level. APC showed positive nuclear immunostaining for an independent set of WT samples, similarly to the FK in week 11. Lack of PLCG2 expression was confirmed in WT and in FK until week 18. Taken together, these results provided molecular evidence of the recapitulation of the embryonic kidney by WT as well as involvement of the Wnt pathway in the earliest events of WT onset.
Assuntos
Neoplasias Renais/genética , Tumor de Wilms/genética , Proteínas Wnt/fisiologia , Perfilação da Expressão Gênica , Humanos , Neoplasias Renais/patologia , Análise de Sequência com Séries de Oligonucleotídeos , Transdução de Sinais , Tumor de Wilms/patologiaRESUMO
Objetivos: Descrever um caso de hamangioma hepático em recém-nascido tratado com cirurgia. Métodos: Relata-se o caso de recém-nascidos do sexo masculino, de 6 dias de vida, com extensa lesão hepática, e sua evolução. Resultados: A criança evoluiu com quadro de descompensação hemodinâmica devido a coagulopatia de consumo e insuficiência respiratória. Os exames de imagem foram inconclusivos, sendo indicado procedimento cirúrgico. Foi realizada ressecção total da massa hepática e confirmado o diagnóstico de hamangioma por estudo anatomopatológico. A criança evoluiu satisfatoriamente, recebeu alta após 15 dias e encontra-se assintomática. Conclusões: O hemangioma hepático deve ter tratamento conservador, estando a cirurgia reservada para os casos de insuficiência cardíaca intratável e/ou coagulopatia consumptiva refratária
Assuntos
Humanos , Masculino , Recém-Nascido , Fígado/cirurgia , HemangiomaRESUMO
Relatamos o caso de um homem de 25 anos de idade portador de hiperparatiroidismo primário (HPP) sintomático (litíase renal, osteoporose à densitometria óssea, lesöes radiológicas sugestivas de HPP e biópsia óssea revelando tumor gigantocelular). Entretanto, mesmo com todos estes achados, o paciente apresentava-se normocalcêmico e com níveis séricos de PTH intacto de 155 pg/ml (normal 13-54 pg/ml). Foi submetido a cervicotomia exploradora que revelou um nódulo de 2,5 cm de diâmetro posterior ao polo inferior do lobo tiroidiano direito, cujo anátomo-patológico foi compatível com cisto de paratiróide fibrótico, com áreas de necrose. Um mês após a cirurgia, o paciente apresenta-se com hipocalcemia assintomática e persiste com dores ósseas difusas. Discutimos o caso em questäo e revisamos a literatura a respeito do assunto.