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Isolated and Persistent Gamma-Glutamyl Transferase Elevation and Porto-Sinusoid...

Nery, Filipe; Teixeira Gomes, Manuel; Carneiro, Fátima

O distúrbio vascular porto-sinusoidal (DVPS) é uma entidade única, com apresentação clínica variável, desde casos assintomáticos até complicações associadas à hipertensão portal. Este relato de caso descreve um homem de 62 anos, com gama-glutamil transferase (GGT) isoladamente elevada com 30 anos de evolução, sem causa evidente após avaliação acurada, culminando na realização de biópsia hepática, sendo confirma...

Date: 2025   |   Origin: SPMI Case Reports

Neoplasias cefalopancreáticas – Nova abordagem em Anatomia Patológica

Silva , Susana; Simplício , Mariana; Campos, Elisabete; Lopes, Joanne; Almeida , Marinho de; Cristino, Humberto; Graça, Luís; Carneiro, Fátima

Enquadramento: A duodenopancreatectomia cefálica (DPC) é uma cirurgia complexa, realizada principalmente para o tratamento de neoplasias malignas ou pré-malignas da cabeça do pâncreas, região periampular e ducto biliar distal. O correto manuseamento macroscópico das amostras de DPC é fundamental para uma avaliação histopatológica precisa, incluindo a origem do tumor, o envolvimento das margens/superfícies cirúr...


Genotype-first approach to identify associations between CDH1 germline variants...

Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre dos Santos; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia

Background Truncating pathogenic or likely pathogenic variants of CDH1 cause hereditary diffuse gastric cancer (HDGC), a tumour risk syndrome that predisposes carrier individuals to diffuse gastric and lobular breast cancer. Rare CDH1 missense variants are often classified as variants of unknown significance. We conducted a genotype– phenotype analysis in families carrying rare CDH1 variants, comparing cancer s...


The ECM and tissue architecture are major determinants of early invasion mediat...

Melo, Soraia; Guerrero, Pilar; Soares, Maurício Moreira; Bordin, José Rafael; Carneiro, Fátima; Carneiro, Patrícia; Dias, Maria Beatriz; Carvalho, João

Germline mutations of E-cadherin cause Hereditary Diffuse Gastric Cancer (HDGC), a highly invasive cancer syndrome characterised by the occurrence of diffuse-type gastric carcinoma and lobular breast cancer. In this disease, E-cadherin-defective cells are detected invading the adjacent stroma since very early stages. Although E-cadherin loss is well established as a triggering event, other determinants of the i...


EBV and MSI status in gastric cancer: does it matter?

Nascimento, Catarina Neto do; Mascarenhas-Lemos, Luís; Silva, João Ricardo; Marques, Diogo Sousa; Gouveia, Catarina Ferreira; Faria, Ana; Velho, Sónia

We investigated the impactof microsatellite instability (MSI) and Epstein–Barr virus (EBV) status in gastric cancer (GC), regarding response to perioperative chemotherapy (POPChT), overall survival (OS), and progression-free survival (PFS). We included 137 cases of operated GC, 51 of which were submitted to POPChT. MSI status was determined by multiplex PCR and EBV status by EBV-encoded RNA in situ hybridizatio...


Role of endoscopic biopsies and morphologic features in predicting microsatelli...

Silva, João R.; Mascarenhas-Lemos, Luís; Neto do Nascimento, Catarina; Sousa Marques, Diogo; Wen, Xiaogang; Pinho, Lídia; Maio, Rui; Pontes, Patrícia

Evaluation of mismatch repair (MMR) protein and microsatellite instability (MSI) status plays a pivotal role in the management of gastric cancer (GC) patients. In this study, we aimed to evaluate the accuracy of gastric endoscopic biopsies (EBs) in predicting MMR/MSI status and to uncover histopathologic features associated with MSI. A multicentric series of 140 GCs was collected retrospectively, in which EB an...


EBV and MSI status in gastric cancer: does it matter?

do Nascimento, Catarina Neto; Mascarenhas-Lemos, Luís; Silva, João Ricardo; Marques, Diogo Sousa; Gouveia, Catarina Ferreira; Faria, Ana; Velho, Sónia

We investigated the impactof microsatellite instability (MSI) and Epstein-Barr virus (EBV) status in gastric cancer (GC), regarding response to perioperative chemotherapy (POPChT), overall survival (OS), and progression-free survival (PFS). We included 137 cases of operated GC, 51 of which were submitted to POPChT. MSI status was determined by multiplex PCR and EBV status by EBV-encoded RNA in situ hybridizatio...


Understanding progression of strictures in ileal Crohn's disease—The importance...

Sousa, Helena Tavares; Carneiro, Fátima

Crohn's disease (CD) is a chronic inflammatory bowel disease most frequently involving the terminal ileum and right colon. Given its transmural nature, CD can lead to progressive bowel damage and complications (e.g., strictures, fistulas and abscesses).1 Over 10% of patients present strictures at diagnosis,2 with 15% to over 20% of the remainders developing them through the next 10 and 20 years, respectively.3 ...


CD44v6 high membranous expression is a predictive marker of therapy response in...

Almeida, Gabriela M; Pereira, Carla; Park, Ji-Hyeon; Lemos, Carolina; Campelos, Sofia; Gullo, Irene; Martins, Diana; Gonçalves, Gilza; Leitão, Dina

In gastric cancer (GC), biomarkers that define prognosis and predict treatment response remain scarce. We hypothesized that the extent of CD44v6 membranous tumor expression could predict prognosis and therapy response in GC patients. Two GC surgical cohorts, from Portugal and South Korea (n = 964), were characterized for the extension of CD44v6 membranous immuno-expression, clinicopathological features, patient...


Immunophenotype of gastric tumors unveils a pleiotropic role of regulatory T ce...

Rocha, Sara; Basto, Afonso; Ijsselsteijn, Marieke E.; Teles, Sara P.; Azevedo, Maria M.; Gonçalves, Gilza; Gullo, Irene; Almeida, Gabriela M.

Gastric cancer (GC) patients display increased regulatory T cell (Tregs) numbers in peripheral blood and among tumor-infiltrating lymphocytes. Nevertheless, the role of Tregs in GC progression remains controversial. Here, we sought to explore the impact of Tregs in GCs with distinct histology, and whether Tregs can directly influence tumor cell behavior and GC development. We performed a comprehensive immunophe...


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