Background: Treatment of advanced differentiated thyroid carcinoma (DTC) remains a challenge as 25-50% of patients with locally invasive or distant metastatic disease become refractory to radioiodine (RAI) therapy. Tyrosine kinase inhibitors (TKI) are increasingly used in this setting. The SELECT trial demonstrated that lenvatinib, a multikinase inhibitor, significantly improved progression free survival (PFS) compared to placebo.
View Article and Find Full Text PDFGermline variants in the FOXE1 transcription factor have been associated with thyroid ectopy, cleft palate (CP) and thyroid cancer (TC). Here, we aimed to clarify the role of in Portuguese families (F1 and F2) with members diagnosed with malignant struma ovarii (MSO), an ovarian teratoma with ectopic malignant thyroid tissue, papillary TC (PTC) and CP. Two rare germline heterozygous variants in the promoter were identified: F1) c.
View Article and Find Full Text PDFPurpose: Data regarding treatment options and their efficacy for metastatic paragangliomas (mPPGL) is limited. This study aims to report a single center experience in treating mPPGL, comparing the efficacy and safety of various treatment approaches.
Methods: Retrospective analysis of patients with mPPGL treated at an Endocrinology Department of a cancer institute between January 2000 and October 2022.
Objective: Insecure attachment is considered a general risk factor for eating disorders (ED). Emotion dysregulation has been proposed as one of the possible mechanisms by which attachment insecurity may affect ED psychopathology. Aim of the present study was to investigate whether difficulties in acceptance of emotions or emotional clarity may mediate the connection between insecure attachment and ED psychopathology.
View Article and Find Full Text PDFFunctioning metastases from differentiated thyroid carcinoma are rare and present a great therapeutic challenge. Here, we present an unusual case of a patient with metastatic thyroid carcinoma who developed a hyperthyroid state a few years after the diagnosis due to functioning metastases. Radioiodine treatment was effective in controlling the hyperthyroidism; however, it had no effect on tumor burden.
View Article and Find Full Text PDFPurpose: The use of FDG-PET for cancer staging has led to the increasing incidence of adrenal lesions, which are usually a clinical challenge. We aimed to characterize the adrenal lesions found in FDG-PET of patients followed in a cancer center.
Methods: Retrospective analysis was conducted of all FDG-PET studies performed in our center in the last 10 years.
Background: Anaplastic thyroid carcinoma (ATC) is one of the most aggressive solid tumors. ATC is frequently diagnosed at advanced stages with unresectable disease and palliative care is often indicated. Recently, several patient-tailored therapies for ATC are emerging due to advances in molecular profiling of these tumors.
View Article and Find Full Text PDFPurpose: Central precocious puberty (CPP) in neurofibromatosis type 1 (NF1) occurs mainly in association with optic pathway glioma (OPG), but it can also develop in the absence of OPG. The aim of this study was to analyze the prevalence of puberty disorders in children with NF1 and its association with OPG and its location.
Methods: A retrospective study of 45 children with NF1 (68.
Context: Haematopoietic stem cell transplantation (HSCT) is a therapeutic option for numerous haematologic diseases and solid tumours. Increasing indications for HSCT and reduction in associated mortality have been raising the number of paediatric HSCT survivors and their long-term toxicities.
Objective: To characterize the endocrine disorders developed after HSCT.
Introduction: Paragangliomas are usually benign slow-growing tumors, but they are locally invasive and can cause significant morbidity. The aim of this study was to characterize the presenting symptoms, secretory status, genetics, imaging features, treatment modalities, post-treatment complications and survival of patients with head and neck paragangliomas treated at a single institution.
Material And Methods: We retrospectively reviewed the clinical records of patients managed at our center between 1997 and 2020.
Objective: Parathyroid Carcinoma is a rare malignant neoplasm, accounting for less than 1% of primary hyperparathyroidism cases. Parathyroid carcinomas are characterized by markedly elevated levels of PTH, severe hypercalcemia and established target organ damage. The authors report the experience of a single centre regarding the management and outcome of patients with parathyroid carcinomas and revise relevant literature.
View Article and Find Full Text PDFRecurrence of Cushing's syndrome due to functional metastasis from adrenocortical carcinoma (ACC) after adrenalectomy is extremely rare. We describe a case of a 56-year-old woman who presented with Cushing's syndrome due to an ACC. Abdominal CT showed a heterogeneous left adrenal tumour of 8 cm as well as a right adrenal nodule with 3 cm.
View Article and Find Full Text PDFIntroduction: Cancer survivors are at an increased risk of adverse outcomes, including thyroid neoplasms, given the high radiosensitivity of this gland. The aim of this study is to assess the incidence and timeframe of thyroid complications in cancer patients, followed systematically since their radiation therapy, and to identify risk factors for the development of hypothyroidism and thyroid cancer.
Methods: We performed a retrospective study, including 282 subjects, who received neck, craniospinal, or total body irradiation (TBI).
Introduction: Struma ovarii (SO) is a rare ovarian teratoma characterized by the presence of thyroid tissue in more than 50% of the tumor. Malignant transformation is rare and the most common associated malignancy is papillary thyroid carcinoma (PTC). Pregnancy may represent a stimulus to differentiated thyroid cancer (DTC) growth in patients with known structural or biochemical evidence of disease, but data about malignant SO evolution during pregnancy are rare.
View Article and Find Full Text PDFDiabetes is a very common chronic disease in the Portuguese population, with an estimated prevalence of 13.6% in the adults. Doubts often arise regarding the best preparation and the risks associated with doing imaging tests in these patients.
View Article and Find Full Text PDFThe first thousand days of life from conception have a significant impact on the health status with short, and long-term effects. Among several anthropometric and maternal lifestyle parameters birth weight plays a crucial role on the growth and neurological development of infants. Recent genome wide association studies (GWAS) have demonstrated a robust foetal and maternal genetic background of birth weight, however only a small proportion of the genetic hereditability has been already identified.
View Article and Find Full Text PDFContext: Lymph node metastases (LNM) can be present in 35% of patients with differentiated thyroid cancer (DTC), and the management of persistent/recurrent nodal disease has been controversial. Watchful waiting may be a reasonable approach in selected patients, but uncertainty about clinical outcomes remains a concern.
Objective: To investigate the outcomes of patients with DTC with recurrent/persistent confirmed LNM under surveillance.
Merkel cell carcinoma is a rare and aggressive cutaneous tumor, and the use of checkpoint inhibitors immunotherapy is a recent indication in its metastatic setting, both first and second line. However, the widespread use of immunotherapy is associated with an increase of acute and late immune-mediated adverse events. We present a case of an elderly fit patient with metastatic Merkel cell carcinoma treated with pembrolizumab who developed diabetic ketoacidosis, a severe immune-mediated adverse event.
View Article and Find Full Text PDFIntroduction: Current guidelines specify controversial areas in adrenocortical carcinomas (ACC), such as optimal follow-up time after remission and identification of prognostic markers. We aim to address these topics by analyzing four reference centers in our country.
Methods: Cross-sectional multicentric study of 69 patients (mean age: 51.
Purpose: Germline mutations in the four genes that encode the succinate dehydrogenase complex (SDHx) are a risk factor for developing pheochromocytomas and/or paragangliomas. The precise genotype-phenotype correlations are still uncertain and the most common SDHx genetic defects in the Portuguese population are poorly described. The objectives of our study were to characterize the genetic alterations, clinical features, and treatment outcomes of a cohort of SDHx-related pheochromocytomas and/or paragangliomas patients.
View Article and Find Full Text PDFBackground: Many pediatric cancer survivors have endocrine conditions. After treatment with alkylating agents, steroids, methotrexate, and radiation, several endocrine dysfunctions may appear. Surveillance for late effects is recommended by guidelines worldwide.
View Article and Find Full Text PDF