Scheithauer, BW; Silva, AI; Parisi, JE; Kovacs, K; Horvath, E
The normal infundibulum and neurohypophysis consist entirely of neuronal processes, the neuronal cell bodies of which lie within the supraoptic and paraventricular nuclei of the hypothalamus and supportive glial cells or pituicytes. The finding of neurons within the neurohypophysis is exceedingly rare, as are ganglion cell tumors at this site. In this paper, we report a ganglion cell tumor of the neurohypophysis found incidentally at autopsy. Despite chronic hypertension and the finding of some vasopressin immunoreactivity in lesional neurons, the syndrome of inappropriate antidiuretic hormone secretion (SIADH) was excluded on the basis of normal serum sodium levels. The morphologic and...
Rodriguez, FJ; Scheithauer, BW; Roncaroli, F; Silva, AI; Kovacs, K; Brat, DJ; Jin, L
Galectin-3 expression has been reported in spindle cell oncocytoma, certain pituitary adenoma subtypes, astrocytomas, oligodendrogliomas, and meningiomas. We evaluated galectin-3 protein expression by immunohistochemistry in 201 cases of a variety of nervous system and sellar tumors, as well as mRNA expression by reverse transcription-polymerase chain reaction in formalin-fixed paraffin-embedded tissue in a subset (20 cases). Immunohistochemical results were evaluated in a semiquantitative fashion on a 4-tiered scale (0 to 3). Strong (3+) immunoreactivity was seen in most of the cases (61%), followed by 2+(22%), and 1+(13%) staining. Only 4% of the lesions studied were immunonegative. Galectin-3 mRNA was present in...
Faustino, A; Couto, JP; Pópulo, H; Rocha, AS; Pardal, F; Cameselle-Teijeiro, JM; Lopes, JM; Sobrinho-Simões, M; Soares, P
There are several genetic and molecular evidences suggesting dysregulation of the mammalian target of rapamycin (mTOR) pathway in thyroid neoplasia. Activation of the phosphatidylinositol-3-kinase/AKT pathway by RET/PTC and mutant RAS has already been demonstrated, but no data have been reported for the BRAF(V600E) mutation.
The aim of this study was to evaluate the activation pattern of the mTOR pathway in malignant thyroid lesions and whether it may be correlated with known genetic alterations, as well as to explore the mechanisms underlying mTOR pathway activation in these neoplasias.
We observed, by immunohistochemical evaluation, an up-regulation/activation of the mTOR pathway proteins in thyroid cancer,...
Santos, AF; Pinho, J; Ramos, V; Pardal, F; Rocha, J; Ferreira, C
We describe a case of a 34-year-old man with a sudden development of right hemiparesis and aphasia because of infarction of the left middle cerebral artery that was submitted to intravenous (IV) recombinant tissue plasminogen activator and mechanical thrombectomy. Transesophageal echocardiogram showed a small mass on the anterior leaflet of the mitral valve. Cardiac surgery was performed, and histological examination of the removed material was consistent with cardiac papillary fibroelastoma (CPF). Experience in using IV thrombolysis for the treatment of embolic stroke because of CPF is limited. To the best of our knowledge, only 3 patients are reported in literature...
Rocha, J; Marques, C; Adams, A; Rodrigues, J
A case of intracranial hemangioma in a neonate is described by the authors. The rarity of the condition raised differential diagnosis problems.
Machado, A; Ferreira, C; Lopes, M; Pereira, T; Pardal, F
Hayden, JD; Cawkwell, L; Dixon, MF; Pardal, F; Murgatroyd, H; Gray, S; Quirke, P; Martin, IG
We have investigated the genetic basis of gastric carcinomas occurring in patients aged under 40 years from a Portuguese population with a relatively high incidence of gastric cancer. We analysed a panel of 12 microsatellite loci in DNA extracted from gastric carcinomas arising in 16 patients aged 24-39 years from Braga, Portugal. Overall, microsatellite instability (MI) in at least 1 locus was detected in 44% (7 of 16) of carcinomas. A single patient demonstrated a mutator phenotype suggestive of the hereditary nonpolyposis colorectal cancer syndrome with instability in 82% of loci. This carcinoma showed loss of expression of the hMLH1...
Costa, NM; Rodrigues, H; Pereira, H; Pardal, F; Matos, E
Secretory breast carcinoma (SBC) is a rare type of invasive breast cancer. Since little is known about the biology of this rare tumour, it is useful to report every such case, in order to make as much information as possible available in the medical literature. We present the case of an 18-year-old woman with a SBC treated by mastectomy (Madden) and axillary node dissection (stage pT3N1M0) followed by chemotherapy (FEC regimen) and radiotherapy. The patient has meanwhile completed 4 years of follow-up with no evidence of recurrence. The authors review the literature and summarize relevant findings concerning definition, pathology, clinical...
Basto, D; Trovisco, V; Lopes, JM; Martins, A; Pardal, F; Soares, P; Reis, RM
The RAS/RAF/MEK/ERK kinase pathway is pivotal in the transduction of mitogenic stimuli from activated growth factor receptors, which regulates cell proliferation, survival, and differentiation. Up-regulation of this pathway due to RAS mutations is found in approximately 30% of human tumors. Recently, activating mutations of B-RAF were identified in a large proportion of human cancers. Gliomas are the most frequent primary central nervous system tumors and the molecular mechanisms that underlie the development and progression of these tumors are far from being completely understood. The purpose of this study was to clarify the incidence of B-RAF mutations and their possible relation...
Lima-Ramos, V; Pacheco-Figueiredo, L; Costa, S; Pardal, F; Silva, A; Amorim, J; Lopes, JM; Reis, RM
TP53 is a key tumor suppressor gene that encodes a transcriptional factor involved in several cellular mechanisms, including growth arrest, DNA repair, and induction of apoptosis. In addition to TP53 gene mutations, a common polymorphism, Arg72Pro, has been involved in the carcinogenesis process. The Pro72 variant has been associated with a slower induction of apoptosis and may influence the risk of cancer development. The role of Arg72Pro polymorphism in glioma susceptibility is poorly characterized. With the objective of analyzing the role of the TP53 Arg72Pro polymorphism in glioma risk, overall survival, and patient therapy response in a Portuguese population, we...
Cameselle-Teijeiro, J; Pardal, F; Eloy, C; Ruiz-Ponte, C; Celestino, R; Castro, P; Soares, P; Sobrinho-Simões, M
We describe an uncommon thyroid tumor in a 56-year-old woman. The widely infiltrating, angioinvasive neoplasm, 5 cm in diameter, exhibited a peculiar architectural growth pattern characterized by follicles with round to oval epithelial tufts growing within, often supported by a fibrovascular core mimicking the renal glomerulus. Colloid-empty follicles, tubular or elongated, were lined by pseudostratified tall, columnar cells with clear cytoplasm. Nuclei were round to oval, with evenly distributed, slightly coarse chromatin. Tumor cells were positive for thyroid transcription factor-1, thyroperoxidase, thyroglobulin, cytokeratin 18, Hector Battifora mesothelial cell, and vimentin. Scattered cells positive for S100, Wilms tumor 1 (WT1), and...
Martins, SF; Garcia, EA; Luz, MA; Pardal, F; Mesquita-Rodrigues, A; Filho, AL
Colorectal cancer (CRC) is the third most common type of cancer and the fourth most frequent cause of cancer death. Literature indicates that vascular endothelial growth factor is a predominant angiogenic factor and that angiogenesis plays an important role in the progression of CRC.
PATIENTS AND METHODS:
The present series consisted of tissue samples obtained from 672 patients who had undergone large bowel resection between 2005 and 2010 at the Braga Hospital, Portugal. Archival paraffin-embedded CRC tissue and normal adjacent samples were used to build up tissue microarray blocks and VEGF-A, VEGF-C, VEGFR-2 and VEGFR-3 expression was immunohistochemically assessed.
We observed an overexpression...
Rocha, J; Duarte, ML; Marques, H; Torres, F; Tavares, P; Silva, A; Brito, C
Ribas, S; Soares, V; Koch, P
O Grupo de Biópsia Aspirativa com Agulha Fina está integrado na Unidade de Cabeça e Pescoço que pertence ao Departamento de Cirurgia do Hospital de S. Marcos. Este grupo foi constituído e iniciou a sua actividade em 2005 e é responsável pela realização de biópsias aspirativas de agulha fina, directas e ecoguiadas, de nódulos localizados na cabeça e pescoço. Este trabalho pretende analisar os primeiros 500 casos de biópsias aspirativas com agulha fina da glândula tiróide. The Group of Fine-needle Aspiration Biopsy is a part of the Unit for Head and Neck which belongs to the Department of Surgery of...
Costa, BM; Viana-Pereira, M; Fernandes, R; Costa, S; Linhares, P; Vaz, R; Pinheiro, C; Lima, J; Soares, P; Silva, A; Pardal, F; Amorim, J; Nabiço, R; Almeida, R; Alegria, C; Pires, MM; Pinheiro, C; Carvalho, E; Oliveira, P; Lopes, JM; Reis, RM
The epidermal growth factor receptor (EGFR) regulates important cellular processes and is frequently implicated in human tumors. Three EGFR polymorphisms have been described as having a transcriptional regulatory function: two single-nucleotide polymorphisms in the essential promoter region, -216G/T and -191C/A, and a polymorphic (CA)(n) microsatellite sequence in intron 1. We aimed to elucidate the roles of these EGFR polymorphisms in glioma susceptibility and prognosis.
We conducted a case-control study with 196 patients with glioma and 168 cancer-free controls. Unconditional multivariate logistic regression models were used to calculate ORs and 95% confidence intervals. A Cox regression model was used to evaluate associations...
Morais, N; Mascarenhas, L; Soares- Fernandes, JP; Silva, A; Magalhães, Z; Moreira da Costa, JA
Primary spinal glioblastoma (GBM) is a rare disease, with an aggressive course and a poor prognosis. We report a case of a 19-year-old male with a 4-week history of progressive weakness in both lower limbs, which progressed to paraparesis with a left predominance and difficulty in initiating urination over a week. Spine magnetic resonance imaging (MRI) showed an intramedullary expansile mass localised between T6 and T11. We performed a laminotomy and laminoplasty between T6 and T11 and the tumour was partially removed. Histopathological study was compatible with GBM. The patient was administered focal spine radiotherapy with chemotherapy with temozolamide. Serial...
Costa, BM; Ferreira, P; Costa, S; Canedo, P; Oliveira, P; Silva, AI; Pardal, F; Suriano, G; Machado, JC; Lopes, JM; Reis, RM
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.
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.
Corroborating the univariate analysis,...
Ventura, F; Rocha, J; Pereira, T; Marques, H; Pardal, F; Brito, C
Martinho, O; Longatto-Filho, A; Lambros, MB; Martins, A; Pinheiro, C; Silva, AI; Pardal, F; Amorim, J; Mackay, A; Milanezi, F; Tamber, N; Fenwick, K; Ashworth, A; Reis-Filho, JS; Lopes, JM; Reis, RM
Rocha, J; Pereira, T; Ventura, F; Pardal, F; Brito, C
Coma blisters are lesions that occur in the setting of a variety of neurological diseases. Although most commonly associated with barbiturate overdose, they can be seen in the setting of coma due to other etiologies. Blisters develop 48-72 h after the onset of unconsciousness. We report the case of a 29-year-old man who presented to the emergency department with confusion and progressive loss of consciousness. He had high serum glucose, abnormal hepatic and kidney function tests and a normal toxicological screening. 24 h after admission he was comatose and was started on antibiotics for presumed bacterial meningoencephalitis. Two days after...