A5077121382- Thyroid Cancer Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Adrenal and Paraganglionic Tumors
- Neuroendocrine Tumor Research Advances
- Cancer, Hypoxia, and Metabolism
- Thyroid Disorders and Treatments
- Cancer-related Molecular Pathways
- Hormonal Regulation and Hypertension
- Thyroid and Parathyroid Surgery
- Neuroblastoma Research and Treatments
- Growth Hormone and Insulin-like Growth Factors
- Head and Neck Anomalies
- Parathyroid Disorders and Treatments
- Medical Imaging and Pathology Studies
- Glioma Diagnosis and Treatment
- Pancreatic and Hepatic Oncology Research
- BRCA gene mutations in cancer
- Adrenal Hormones and Disorders
- Ovarian cancer diagnosis and treatment
- Myasthenia Gravis and Thymoma
- Cancer-related gene regulation
- Sexual Differentiation and Disorders
- Wnt/β-catenin signaling in development and cancer
- S100 Proteins and Annexins
- Biomarkers in Disease Mechanisms
University of Lisbon
2014-2025
Hospital de Santa Maria
2017-2025
Centro Hospitalar Lisboa Norte
2019-2024
Fundação Faculdade de Medicina
2021
University College London Hospitals NHS Foundation Trust
2020
University College London
2020
Creative Research Enterprises (United States)
2018
Instituto Português de Oncologia Francisco Gentil
1992-2016
Universidade Nova de Lisboa
2008-2016
Instituto de Saúde
2015-2016
Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated a worse clinical outcome. However, the correlation between type RET mutation and patients' clinicopathological data not evaluated yet. We analysed exons 5, 8, 10-16 fifty-one MTC, found somatic thirty-three (64.7%) tumours. Among cases, exon 16 was most frequently affected (60.6%). Two novel...
Abstract Background and Objectives Preoperative diagnosis of sporadic medullary thyroid carcinoma (MTC) has mainly relied on fine needle aspiration cytology (FNAC). The present study aimed to compare the sensitivity this technique with serum calcitonin (CT) measurement assess therapeutic implications an inadequate preoperative diagnosis. Methods We reviewed clinical records 91 MTC patients treated and/or followed at our institution between January 1990 December 2003. Results After revision...
Abstract Context Urine steroid metabolomics, combining mass spectrometry-based profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). Objective, Design, Setting This proof-of-concept study evaluated the performance urine metabolomics postoperative recurrence after microscopically complete (R0) resection ACC. Patients Methods 135 patients from 14 clinical centers provided samples, which were analyzed by gas...
To determine the incidence and associated factors of new-onset diabetes after transplantation (NODAT) in a Portuguese central hospital.This single-center retrospective study involved consecutive adult nondiabetic transplant recipients, who had undergone kidney between January 2012 March 2016. NODAT was diagnosed according to criteria American Diabetes Association. Data were collected from an institutional database Nephrology Kidney Transplantation Department (Santa Maria Hospital, Lisbon,...
Introduction: Molecular tests can contribute to improve the preoperative diagnosis of thyroid nodules. Tests available are expensive and not adapted different populations. Aim: This study aimed compare cyto-histological genetic profile evaluate reliability molecular using ultrasound-guided fine needle aspiration cytology (US-FNAC) in accurately diagnosing differentiated carcinomas (DTCs) predicting biologic behavior papillary (PTCs). Materials Methods: The series included 259 patients with...
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles individual mutations. To describe neoplastic carriers pathogenic likely VHL germline mutations, our observational study recruited 1350 participants from 40 centers worldwide. 432 different mutations were observed, with p.Asn78Ser,...
Abstract. One hundred and ninety‐seven members of 28 kindreds with multiple endocrine neoplasia type 2A (MEN 2A) were screened for RET proto‐oncogene exon 10 11 mutations. Seventy‐one known affected individuals had mutations codons 609, 618, 620 or 634, whereas 53 unaffected no abnormalities. Nineteen out 54 unknown status, mostly children, Four these children thyroidectomy based on this analysis found to have C‐cell We identified one false negative mutation because a codon 691 polymorphism....
Objective: Searching for multiple molecular markers in thyroid aspirates appears to be a promising approach establishing preoperative diagnosis of papillary carcinoma (PTC). Methods: Based on this hypothesis, total 63 samples from 55 patients, were collected at random. RNA was extracted the residue cells inside needle used fine aspiration cytology (FNAC) and thereafter analysis carried out both RET rearrangements (type 1, 2, 3) BRAF codon 599 mutation molecule. Results compared with...
Summary Objective Germline mutations in the HRPT2 gene are associated with hereditary hyperparathyroidism‐jaw tumour syndrome (HPT‐JT) and a subset of familial isolated hyperparathyroidism (FIHP). Somatic detected sporadic parathyroid carcinomas less frequently cystic adenomas. The purpose this study was to investigate underlying defect young patient symptomatic due an apparently adenoma features. Design Methods patient’s genomic DNA were screened by PCR‐based sequencing. Tumour loss...
The BRAF V600E mutation is the most frequent genetic alteration in papillary thyroid carcinoma (PTC). In colorectal cancer, was described to functionally cooperate with RAC1b, a hyperactive splice variant of small GTPase RAC1, sustain cell survival. This interplay has never been investigated PTCs.We aimed analyze expression RAC1b PTC and correlate its mutational status, histopathological features, clinical outcome.Sixty-one patients 87 samples (61 PTCs 26 normal tissues) were included....
Children present a higher susceptibility to developing thyroid cancer after radioiodine exposure and also frequency of functional metastases than adults.To assess the mRNA expression sodium/iodide (Na(+)/I(-)) symporter (NIS), Pendred syndrome gene (PDS), thyroperoxidase (TPO), thyroglobulin (Tg) TSH receptor (TSH-R) in normal tissues (NTTs) papillary carcinomas (PTCs) among different age groups.Analysis included 59 samples: 21 NTTs 38 PTCs, which were classic type (CPTC) 17 follicular...
Overexpression of tumor-associated RAC1b has been recently highlighted as one the most promising targets for therapeutic intervention in colon, breast, lung and pancreatic cancer. is a hyperactive variant small GTPase RAC1 shown to be overexpressed subset papillary thyroid carcinomas associated with unfavorable outcome. Using K1 PTC derived cell line an vitro model, we observed that both were able induce significant increase on NF-kB cyclin D1 reporter activity. A clear p65 nuclear...
OBJECTIVE: Recent studies have assigned clinical significance and prognostic value to the detection of thyroglobulin (Tg) mRNA in blood patients subjected total thyroidectomy for a papillary or follicular thyroid carcinoma. In this study, we investigated diagnostic specificity Tg detection, analysing samples from healthy volunteers previously reasons other than carcinoma epithelium. DESIGN AND METHODS: Total RNA was extracted whole blood, reverse-transcribed cDNA amplified...
Abstract Autoantibodies are produced within germinal centers (GC), in a process regulated by interactions between B, T follicular helper (Tfh), and regulatory (Tfr) cells. The GC dysregulation human autoimmunity has been inferred from circulating cells, albeit with conflicting results due to diverse experimental approaches. We applied consistent approach compare Tfr Tfh subsets patients different autoimmune diseases. recruited 97 participants, including 72 Hashimoto’s thyroiditis (HT, n =...
Familial cases of medullary thyroid carcinoma (MTC) may be diagnosed by genetic screening, while in sporadic tumors the diagnosis relies mainly on fine‑needle aspiration cytology. The aim present study was to determine demographic, clinical and pathological characteristics MTC patients followed‑up at Portuguese Institute Oncology Francisco Gentil (Lisbon, Portugal). For that purpose, a retrospective analysis 140 between 1990 2010 performed. results indicated with hereditary (11.4%) were...