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1.
J Cutan Pathol ; 47(1): 22-26, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31568560

RESUMO

White sponge nevus (WSN) is an uncommon benign inherited disorder characterized by white and diffuse painless lesions in oral, esophageal, or genital mucosa. The lesions may develop at birth or later in childhood or adolescence, with careful clinical examination being sufficient for diagnosis in most cases. However, microscopic analysis may be necessary particularly in adults in which other whitish oral lesions may be clinically suspected. Dermatologists, dentists, and pathologists should consider WSN when evaluating multiple white oral lesions, thus preventing unnecessary treatments. Herein, we report four additional cases of WSN with emphasis on its clinical and histopathological features.


Assuntos
Leucoceratose da Mucosa Hereditária , Mucosa Bucal/patologia , Adulto , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Leucoceratose da Mucosa Hereditária/diagnóstico , Leucoceratose da Mucosa Hereditária/patologia
2.
J Med Case Rep ; 10: 200, 2016 Jul 20.
Artigo em Inglês | MEDLINE | ID: mdl-27439460

RESUMO

BACKGROUND: Limbic encephalitis was originally described as a rare clinical neuropathological entity involving seizures and neuropsychological disturbances. In this report, we describe cerebral patterns visualized by positron emission tomography in a patient with limbic encephalitis and cholangiocarcinoma. To our knowledge, there is no other description in the literature of cerebral positron emission tomography findings in the setting of limbic encephalitis and subsequent diagnosis of cholangiocarcinoma. CASE PRESENTATION: We describe a case of a 77-year-old Caucasian man who exhibited persistent cognitive changes 2 years before his death. A cerebral scan obtained at that time by 2-deoxy-2-[fluorine-18]fluoro- D -glucose integrated with computed tomography-positron emission tomography showed low radiotracer uptake in the frontal and temporal lobes. Cerebrospinal fluid analysis indicated the presence of voltage-gated potassium channel antibodies. Three months before the patient's death, a lymph node biopsy indicated a cholangiocarcinoma, and a new cerebral scan obtained by 2-deoxy-2-[fluorine-18]fluoro-D-glucose integrated with computed tomography-positron emission tomography showed an increment in the severity of metabolic deficit in the frontal and parietal lobes, as well as hypometabolism involving the temporal lobes. Two months before the patient's death, cerebral metastases were detected on a contrast-enhanced computed tomographic scan. Postmortem examination revealed a cholangiocarcinoma with multiple metastases including the lungs and lymph nodes. The patient's brain weighed 1300 g, and mild cortical atrophy, ex vacuo dilation of the ventricles, and mild focal thickening of the cerebellar leptomeninges, which were infiltrated by neoplastic epithelial cells, were observed. CONCLUSIONS: These findings support the need for continued vigilance in malignancy surveillance in patients with limbic encephalitis and early cerebral positron emission tomographic scan abnormalities. The difficulty in early diagnosis of small tumors, such as a cholangiocarcinoma, is discussed in the context of the clinical utility of early cerebral hypometabolism detected by 2-deoxy-2-[fluorine-18]fluoro-D-glucose integrated with computed tomography-positron emission tomography in patients with rapidly progressive dementia.


Assuntos
Neoplasias dos Ductos Biliares/complicações , Encefalopatias/complicações , Encefalopatias/diagnóstico por imagem , Colangiocarcinoma/complicações , Fluordesoxiglucose F18 , Encefalite Límbica/complicações , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Idoso , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Evolução Fatal , Humanos , Masculino , Compostos Radiofarmacêuticos
3.
Diagn Pathol ; 10: 59, 2015 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-26032781

RESUMO

BACKGROUND: Human papillomavirus (HPV) inactivates the retinoblastoma 1 (RB1) gene by promoter methylation and reduces cellular E-cadherin expression by overexpression of DNA methyltransferase 1 (DNMT1). The Epstein-Barr virus (EBV) is an oncogenic virus that may be related to cervical carcinogenesis. In gastric cancer, it has been demonstrated that E-cadherin gene (CDH1) hypermethylation is associated with DNMT1 overexpression by EBV infection. Our aim was to analyze the gene promoter methylation frequency of RB1 and CDH1 and verify the association between that methylation frequency and HPV and EBV infection in cervical lesions. METHODS: Sixty-five samples were obtained from cervical specimens: 15 normal cervices, 17 low-grade squamous intraepithelial lesions (LSIL), 15 high-grade squamous intraepithelial lesions (HSIL), and 18 cervical cancers. HPV and EBV DNA testing was performed by PCR, and the methylation status was verified by MSP. RESULTS: HPV frequency was associated with cervical cancer cases (p = 0.005) but not EBV frequency (p = 0.732). Viral co-infection showed a statistically significant correlation with cancer (p = 0.027). No viral infection was detected in 33.3% (5/15) of controls. RB1 methylated status was associated with cancer (p = 0.009) and HPV infection (p = 0.042). CDH1 methylation was not associated with cancer (p = 0.181). Controls and LSIL samples did not show simultaneous methylation, while both genes were methylated in 27.8% (5/18) of cancer samples. In the presence of EBV, CDH1 methylation was present in 27.8% (5/18) of cancer samples. Only cancer cases presented RB1 promoter methylation in the presence of HPV and EBV (33.3%). CONCLUSIONS: The methylation status of both genes increased with disease progression. With EBV, RB1 methylation was a tumor-associated event because only the cancer group presented methylated RB1 with HPV infection. HPV infection was shown to be significantly correlated with cancer conditions. The global methylation frequency was higher when HPV was present, showing its epigenetic role in cervical carcinogenesis. Nevertheless, EBV seems to be a cofactor and needs to be further investigated. VIRTUAL SLIDES: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1159157579149317 .


Assuntos
Caderinas/genética , Metilação de DNA , DNA Viral/genética , Infecções por Vírus Epstein-Barr/genética , Herpesvirus Humano 4/genética , Papillomaviridae/genética , Infecções por Papillomavirus/genética , Regiões Promotoras Genéticas , Proteína do Retinoblastoma/genética , Lesões Intraepiteliais Escamosas Cervicais/genética , Displasia do Colo do Útero/genética , Neoplasias do Colo do Útero/genética , Antígenos CD , Caderinas/metabolismo , Estudos de Casos e Controles , DNA (Citosina-5-)-Metiltransferase 1 , DNA (Citosina-5-)-Metiltransferases/genética , DNA (Citosina-5-)-Metiltransferases/metabolismo , Progressão da Doença , Epigênese Genética , Infecções por Vírus Epstein-Barr/virologia , Feminino , Regulação Neoplásica da Expressão Gênica , Herpesvirus Humano 4/patogenicidade , Interações Hospedeiro-Patógeno , Testes de DNA para Papilomavírus Humano , Humanos , Gradação de Tumores , Papillomaviridae/patogenicidade , Infecções por Papillomavirus/virologia , Reação em Cadeia da Polimerase , Proteína do Retinoblastoma/metabolismo , Lesões Intraepiteliais Escamosas Cervicais/enzimologia , Lesões Intraepiteliais Escamosas Cervicais/patologia , Lesões Intraepiteliais Escamosas Cervicais/virologia , Neoplasias do Colo do Útero/enzimologia , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologia , Displasia do Colo do Útero/enzimologia , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/virologia
5.
Curr Top Med Chem ; 14(3): 382-7, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24304316

RESUMO

Melanoma is the third most common brain metastasis cause in the United States as it has a relatively high susceptibility to metastasize to the central nervous system. Among the different origins for brain metastasis, those originating from primary gastric melanomas are extremely rare. Here, we compare protein profiles obtained from formalin-fixed paraffin- embedded (FFPE) tissues of a primary gastric melanoma with its meningeal metastasis. For this, the contents of a microscope slide were scraped and ultimately analyzed by nano-chromatography coupled online with tandem mass spectrometry using an Orbitrap XL. Our results disclose 184 proteins uniquely identified in the primary gastric melanoma, 304 in the meningeal metastasis, and 177 in common. Notably, we identified several enzymes related to changes in the metabolism that are linked to producing energy by elevated rates of glycolysis in a process called the Warburg effect. Moreover, we show that our FFPE proteomic approach allowed identification of key biological markers such as the S100 protein that we further validated by immunohistochemistry for both, the primary and metastatic tumor samples. That said, we demonstrated a powerful strategy to retrospectively mine data for aiding in the understanding of metastasis, biomarker discovery, and ultimately, diseases. To our knowledge, these results disclose for the first time a comparison of the proteomic profiles of gastric melanoma and its corresponding meningeal metastasis.


Assuntos
Melanoma/metabolismo , Neoplasias Meníngeas/metabolismo , Neoplasias Meníngeas/secundário , Proteínas de Neoplasias/análise , Inclusão em Parafina , Proteoma/análise , Neoplasias Gástricas/metabolismo , Fixação de Tecidos , Formaldeído/química , Humanos , Masculino , Melanoma/patologia , Neoplasias Meníngeas/patologia , Pessoa de Meia-Idade , Proteínas de Neoplasias/química , Neoplasias Gástricas/patologia
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