11 documents found, page 1 of 2
The cdh1 c.1901c>t variant: A founder variant in the portuguese population w...
Barbosa-Matos, R; Leal Silva, R; Garrido, L; Aguiar, AC; Garcia-Pelaez, J; André, A; Seixas, S; Sousa, SP; Ferro, L; Vilarinho, L; Gullo, I; Devezas, VHereditary diffuse gastric cancer (HDGC) caused by CDH1 variants predisposes to early-onset diffuse gastric (DGC) and lobular breast cancer (LBC). In Northern Portugal, the unusually high number of HDGC cases in unrelated families carrying the c.1901C>T variant (formerly known as p.A634V) suggested this as a CDH1-founder variant. We aimed to demonstrate that c.1901C>T is a bona fide truncating variant inducing ...
The adaptive immune landscape of the colorectal adenoma–carcinoma sequence
Freitas, JA; Gullo, I; Garcia, D; Miranda, S; Spaans, L; Pinho, L; Reis, J; Sousa, F; Baptista, M; Resende, C; Leitão, D; Durães, C; Costa, JLBackground. The tumor immune microenvironment exerts a pivotal influence in tumor initiation and progression. The aim of this study was to analyze the immune context of sporadic and familial adenomatous polyposis (FAP) lesions along the colorectal adenoma–carcinoma sequence (ACS). Methods. We analyzed immune cell counts (CD3+, CD4+, CD8+, Foxp3+, and CD57+), tumor mutation burden (TMB), MHC-I expression and PD-...
Immunophenotype of gastric tumors unveils a pleiotropic role of regulatory t ce...
Rocha, S; Basto, AP; Ijsselsteijn, ME; Teles, SP; Azevedo, MM; Gonçalves, G; Gullo, I; Almeida, GM; Maqueda, JJ; Oliveira, MI; Carneiro, F; Barata, JTGastric 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 develop-ment. We performed a comprehensive immunoph...
Cd44v6 high membranous expression is a predictive marker of therapy response in...
Almeida, GM; Pereira, C; Park, JH; Lemos, C; Campelos, S; Gullo, I; Martins, D; Gonçalves, G; Leitão, D; Neto, JL; André, A; Borges, C; Almeida, DIn 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...
Histological and mutational profile of diffuse gastric cancer: current knowledg...
Garcia-Pelaez, J; Barbosa-Matos, R; Gullo, I; Carneiro, F; Oliveira, CGastric cancer (GC) pathogenesis is complex and heterogeneous, reflecting morphological, molecular and genetic diversity. Diffuse gastric cancer (DGC) and intestinal gastric cancer (IGC) are the major histological types. GC may be sporadic or hereditary; sporadic GC is related to environmental and genetic low-risk factors and hereditary GC is caused by inherited high-risk mutations, so far identified only for t...
Proteomics analysis of gastric cancer patients with diabetes mellitus
Osorio, H; Silva, C; Ferreira, M; Gullo, I; Máximo, V; Barros, R; Mendonça, F; Oliveira, C; Carneiro, FProteomics is a powerful approach to study the molecular mechanisms of cancer. In this study, we aim to characterize the proteomic profile of gastric cancer (GC) in patients with diabetes mellitus (DM) type 2. Forty GC tissue samples including 19 cases from diabetic patients and 21 cases from individuals without diabetes (control group) were selected for the proteomics analysis. Gastric tissues were processed f...
Ileal Crohn's Disease Exhibits Similar Transmural Fibrosis Irrespective of Phen...
Sousa, HT; Gullo, I; Castelli, C; Dias, CC; Rieder, F; Carneiro, F; Magro, FINTRODUCTION:In Crohn's disease (CD), the assessment of transmural inflammation and fibrosis is of utmost importance. This study aimed to quantify these parameters in CD ileal specimens and correlate them with disease progression.METHODS:This is a retrospective unicentric study based on the analysis of archived specimens (n = 103) of primary ileal resection. Data were retrieved from a prospective national infla...
The Dysfunctional Immune System in Common Variable Immunodeficiency Increases t...
Gullo, I; Costa, C; Silva, SL; Ferreira, C; Motta, A; Silva, SP; Ferreira, RD; Rosmaninho, P; Faria, E; Costa, JTd; Câmara, R; Gonçalves, GGastric carcinoma (GC) represents the most common cause of death in patients with common variable immunodeficiency (CVID). However, a limited number of cases have been characterised so far. In this study, we analysed the clinical features, bacterial/viral infections, detailed morphology and immune microenvironment of nine CVID patients with GC. The study of the immune microenvironment included automated digital...
Neoplastic and pre-neoplastic lesions of the oesophagus and gastro-oesophageal ...
Grillo, F; Mastracci, L; Saragoni, L; Vanoli, A; Limarzi, F; Gullo, I; Ferro, J; Paudice, M; Parente, P; Fassan, MOesophageal and gastro-oesophageal junction (GOJ) neoplasms, and their predisposing conditions, may be encountered by the practicing pathologist both as biopsy samples and as surgical specimens in daily practice. Changes in incidence of oesophageal squamous cell carcinomas (such as a decrease in western countries) and in oesophageal and GOJ adenocarcinomas (such as a sharp increase in western countries) are bei...
Precancerous lesions of the stomach, gastric cancer and hereditary gastric canc...
Gullo, I; Grillo, F; Mastracci, L; Vanoli, A; Carneiro, F; Saragoni, L; Limarzi, F; Ferro, J; Parente, P; Fassan, MGastric cancer accounts for about 6% of cancers worldwide, being the fifth most frequently diagnosed malignancy and the third leading cause of cancer related death. Gastric carcinogenesis is a multistep and multifactorial process and is the result of the complex interplay between genetic susceptibility and environmental factors. The identification of predisposing conditions and of precancerous lesions is the ba...