A5101430249- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- Acute Myeloid Leukemia Research
- Cancer Immunotherapy and Biomarkers
- Hemoglobinopathies and Related Disorders
- Iron Metabolism and Disorders
- Molecular Biology Techniques and Applications
- Hematopoietic Stem Cell Transplantation
- Immune Cell Function and Interaction
- Hematological disorders and diagnostics
- Hearing Impairment and Communication
- Hepatocellular Carcinoma Treatment and Prognosis
- Spatial Cognition and Navigation
- Renal cell carcinoma treatment
- Tactile and Sensory Interactions
- Diabetes Treatment and Management
- Lymphoma Diagnosis and Treatment
- Adolescent Sexual and Reproductive Health
- DNA Repair Mechanisms
- Neurosurgical Procedures and Complications
- Lung Cancer Research Studies
- Synthesis and biological activity
- Sexuality, Behavior, and Technology
- Diabetes Management and Research
Universidade do Porto
2016-2023
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2019-2023
Hospital de São João
1988
Identification 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 Situ Hybridization (FISH) sequential approach was compared Next-Generation Sequencing (NGS)-based the detection actionable genomic mutations an experimental cohort (EC) 117 Its applicability assessed small biopsies and cytology specimens previously tested epidermal growth factor receptor...
Introduction: Cell-free DNA (cfDNA) analysis offers a non-invasive method to identify sensitising and resistance mutations in advanced Non-Small Cell Lung Cancer (NSCLC) patients. Next-generation sequencing (NGS) of circulating free is valuable tool for detection disease′s clonal monitoring. Material methods: An amplicon-based targeted gene NGS panel was used analyse 101 plasma samples non-small cell lung cancer patients with known oncogenic mutations, mostly EGFR serially collected at...
Acute myeloid leukemia (AML) is a heterogeneous disease with poor prognosis and limited treatment strategies. Determining the role of cell-extrinsic regulators leukemic cells vital to gain clinical insights into biology AML. Iron key extrinsic regulator cancer, but its systemic regulation remains poorly explored in To address this question, we studied iron metabolism patients AML at diagnosis mechanisms involved using syngeneic MLL-AF9-induced mouse model. We found that disorder unique...
Background: Analysis of circulating tumor DNA (ctDNA) has remarkable potential as a non-invasive lung cancer molecular diagnostic method. This prospective study addressed the clinical value targeted-gene amplicon-based plasma next-generation sequencing (NGS) assay to detect actionable mutations in ctDNA patients with newly diagnosed advanced adenocarcinoma. Methods: test performance and concordance tissue NGS were determined, correlation between findings, features, outcomes was evaluated 115...
Background. The tumor immune microenvironment exerts a pivotal influence in initiation and progression. aim of this study was to analyze the context sporadic familial adenomatous polyposis (FAP) lesions along colorectal adenoma–carcinoma sequence (ACS). Methods. We analyzed cell counts (CD3+, CD4+, CD8+, Foxp3+, CD57+), mutation burden (TMB), MHC-I expression PD-L1 59 FAP 74 lesions, encompassing adenomas with low-grade dysplasia (LGD) (30 FAP; 30 sporadic), high-grade (22 invasive...
Introduction: Overcoming immunosurveillance is a major step in the progression of many types tumors. Several immune escape strategies have been identified, including immunoediting and establishment an suppressive microenvironment. The aim present study was to determine whether hereditary or sporadic context has any influence relationship between surveillance tumor development, using familial adenomatous polyposis related colorectal adenomas as model.Material Methods: tumor-infiltrating cells...
Abstract Acute myeloid leukemia (AML) is a heterogeneous disease with poor prognosis and limited treatment strategies. Determining the role of cell-extrinsic regulators leukemic cells vital to gain clinical insights into biology AML. Iron key extrinsic regulator cancer but its systemic regulation remains poorly explored in To address this question, we studied iron metabolism AML patients at diagnosis mechanisms involved using syngeneic MLL-AF9-induced mouse model. We found that disorder...
The bone marrow (BM) is the soft tissue found within bones where hematopoiesis, process by which new blood cells are generated, primarily occurs. As such, it contains hematopoietic stem and progenitor (HSPCs), as well supporting stromal that contribute to maintenance regulation of HSPCs. Hematological other BM disorders disrupt hematopoiesis affecting directly and/or through alteration niche. Here, we describe a method study in health malignancy phenotypic analysis murine HSPCs niche...
Abstract Tumor-specific (somatic) mutations in plasma can serve as biomarkers for tumor detection, monitor response to specific therapies, detect residual disease after surgery, and long-term follow-up. The intrinsic low abundance of circulating cell-free DNA (cfDNA) makes the detection quantification such a challenging task. This study aimed establish comprehensive strategy be used clinically relevant somatic lung cancer patients both at diagnosis during follow-up disease. Plasma samples...
Abstract In several cancer models, it was shown that tumor mutation load correlates with response to immune checkpoint blockade therapy. However, whole exome sequencing of FFPE samples is not ideal for implementation on molecular pathology laboratories. colorectal (CRC), correlated microsatellite instability (MSI), which can therefore be used as surrogate marker load. this study, we aimed at determining whether a target NGS-based panel routine testing in cancer, by assessing its performance...
Abstract A cornerstone of the biological process which mediates response to immunotherapy in cancer patients is expression neoantigens resulting from somatic mutations cells. Little attention has been paid so far neoantigen's immune cell counterpart, T-cell receptor (TCR). In this study, we aimed at characterizing tumor infiltrating repertoire colorectal (CRC), and evaluate evidence for neoantigen driven expansion within microenvironment. To characterize repertoire, used Ion AmpliSeq Immune...
The bone marrow (BM) is the soft tissue found within bones where hematopoiesis, process by which new blood cells are generated, primarily occurs. As such, it contains hematopoietic stem and progenitor (HSPCs), as well supporting stromal that contribute to maintenance regulation of HSPCs. Hematological other BM disorders disrupt hematopoiesis affecting directly and/or through alteration niche. Here, we describe a method study in health malignancy phenotypic analysis murine HSPCs niche...