15 documents found, page 1 of 2
Sequential T790M mutation testing and changes in the therapeutic approach after...
Estevinho, Fernanda; Silva, Ana Catarina; Cirnes, Luís; Amaro, TeresinaThe EGFR mutation is identified in 10-50% of patients with non-small cell lung cancer (NSCLC). After first-line therapy, with 1st or 2nd line tyrosinacinase (TKI) inhibitors, in patients with NSCLC and a sensitizing EGFR mutation the most frequent mechanism of resistance is the acquisition of a T790M mutation, in 50-70%. We present the clinical case of a woman with NSCLC, cT2bN1M1b, stage IV with cerebral and a...
Análise de variantes no gene STK11 e sua influência na resposta à imunoterapia
Bessa, Ana; Pina, Maria; Domigues, Patrícia; Dias, Margarida; Pinto, Carla; Cirnes, Luís; Silva, ReginaIntrodução: A imunoterapia é uma das ferramentas terapêuticas de sucesso usadas no tratamento do cancro de pulmão, contudo alguns doentes apresentam progressão da doença ou morte. O gene Serine/ threonine Kinase 11 (STK11) está descrito como tendo um papel na fisiologia do sistema imune (SI) e que alterações genéticas no mesmo podem influenciar negativamente a resposta dos pacientes à imunoterapia [1]. Objetivo...
Análise de variantes no gene STK11 e sua influência na resposta à imunoterapia
Bessa, Ana; Pina, Maria; Domingues, Patrícia; Dias, Margarida; Pinto, Carla; Cirnes, Luís; Silva, Regina A.A imunoterapia é uma das ferramentas terapêuticas de sucesso usadas no tratamento do cancro de pulmão, contudo alguns doentes apresentam progressão da doença ou morte. O gene Serine/ threonineKinase 11 (STK11) está descrito como tendo um papel na fisiologia do sistema imune(SI) e que alterações genéticas no mesmo podem influenciar negativamente a resposta dos pacientes à imunoterapia. Estudar alterações genétic...
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, PatríciaEvaluation 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...
Resistance profile of osimertinib in pre-treated patients with EGFR T790M-mutat...
Fernandes, Maria Gabriela O.; Sousa, Catarina; Jacob, Maria; Almeida, Leonor; Santos, Vanessa; Araújo, David; Bastos, Hélder Novais; Magalhães, AdrianaOsimertinib efficacy in pre-treated patients with epidermal growth factor receptor (EGFR) T790M-mutated non-small cell lung cancer (NSCLC) has been demonstrated in clinical trials, but real-world data, particularly regarding resistance profile, remains limited. This study aims to analyze the resistance mechanisms acquired after treatment with Osimertinib. Clinical outcomes and molecular results from re-biopsie...
Pesquisa de mutação T790M sequencial e alteração da abordagem terapêutica após ...
Estevinho, Fernanda; Silva, Ana Catarina; Cirnes, Luís; Amaro, TeresinaA mutação do EGFR é identificada em 10 -50% dos doentes com cancro do pulmão de não pequenas células (CPNPC). Após terapêutica de primeira linha com inibidores da tirosinacinase (TKI) de 1.ª ou 2.ª linha, em doentes com CPNPC e mutação sensibilizadora do EGFR, o mecanismo de resistência mais frequente é a aquisição de mutação T790M, em 50 -70%. Apresenta -se o caso clínico de uma mulher com CPNPC, cT2bN1M1b, es...
How the COVID-19 Pandemic Impacted Oncological Molecular Diagnosis: A Picture f...
Pinto, Daniel; Cirnes, Luís; Pinto, Regina; Pina, Maria João; Giancarlo, Troncone; Schimitt, FernandoThe Portuguese healthcare system had to adapt at short notice to the COVID-19 pandemic. We implemented workflow changes to our molecular pathology laboratory, a national reference center, to maximize safety and productivity. We assess the impact this situation had on our caseload and what conclusions can be drawn about the wider impact of the pandemic in oncological therapy in Portugal. Material and Methods. We...
The bigger the better? Evaluation of the value of large multi-gene panels in Po...
Baixia, Márcia; Sousa, Sónia; Pina, Maria J.; Silva, Raquel M; Cirnes, Luís; Canedo, Paulo; Castedo, Sérgio; Machado, José C,Introduction: Genetic testing of cardiomyopathies went through major changes in the last few years, from sequential Sanger sequencing of the most likely gene candidates, to multigene panels by NGS, with an ever increasing number of genes analyzed.
Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung A...
Fernandes, Maria Gabriela O.; Jacob, Maria; Martins, Natália; Moura, Conceição Souto; Guimarães, Susana; Pereira Reis, Joana; Justino, AnaIdentification of targetable molecular changes is essential for selecting appropriate treatment in patients with advanced lung adenocarcinoma. Methods: In this study, a Sanger sequencing plus Fluorescence In Situ Hybridization (FISH) sequential approach was compared with a Next-Generation Sequencing (NGS)-based approach for the detection of actionable genomic mutations in an experimental cohort (EC) of 117 pati...
Oral and Gastric Helicobacter Pylori: Effects and Associations
Veiga, Nélio Jorge; Pereira, Carlos; Resende, Carlos; Amaral, Odete; Ferreira, Manuela; Nelas, Paula; Chaves, Claudia; Duarte, João; Cirnes, LuísIntroduction This study consisted in the comparison of the prevalence of Helicobacter pylori (H. pylori) present in the stomach and in saliva of a sample of Portuguese adolescents and the assessment of the association between H. pylori infection with socio-demographic variables and prevalence of dental caries. Materials and Methods A cross-sectional study was designed including a sample of 447 adolescents aged ...