Endocrine Abstracts

Genetic intratumor heterogeneity has been recently demonstrated in some solid human cancers and a few years ago RET mutated and not mutated cells were described in medullary thyroid carcinoma (MTC). Nobody reported the presence of two different RET mutations.Aim of our study was to investigate the RET somatic mutation profile in primary MTC (pMTC) and in the corresponding metastatic tissues (mets).We studied pMTC and mets of 22 MTC...

Background: Malignancy and hyperthyroidism used to be considered mutually exclusive, but increased association was observed. These two conditions incidence is variable, ranging between 0 and 9%, Graves’ disease is especially linked to differentiated thyroid carcinoma type.Case presentation: We report the case of a 33 year old, female, smoker, diagnosed with Basedow–Graves disease in may 2015, on methimazole 20 mg/day. She was admitted to our de...

Introduction: BRAF V600E mutation is reported to occur in 28–83% of papillary thyroid cancer, being associated with increased tumour aggressiveness.Objective: To determine the prevalence of BRAF V600E mutation in Romanian patients with thyroid nodules referred to surgery in a reference endocrinology centre.Materials and methods: 140 patients were included in the study: 70 patients with papillary thyroid carcinoma (PTC), 42 pat...

Osteopontin (OPN) is a matricellular protein highly expressed in cancer cells, which is able to modulate tumorigenesis and metastasis in several malignancies, including follicular cell-derived thyroid cancers (TC). OPN is one of the gene products aberrantly expressed in TC, but the contribution of each OPN isoform (OPNi), named as OPNa, OPNb and OPNc, is currently unknown. This study aims to analyze the expression profile of OPNi in TC tissue samples, correlate its expression ...

Introduction: BRAFV600E mutation is the most frequent alteration in papillary thyroid carcinoma (PTC). Although its relation to factors of poor prognosis was demonstrated in many studies the use of BRAF as a predictive marker in clinical treatment of PTC patients is controversial. The aim of our study was to analyze molecular consequences of BRAFV600E mutation in a transgenic mouse model performed for this purpose and to refer the obtained results to...

Targeted therapy based on tyrosine kinase inhibitors (TKIs) constitutes a new treatment modality in thyroid cancer (TC). Their efficacy in prolongation of progression free survival in comparison to placebo has been documented in phase III studies. However, a problem of their tolerability has recently risen as numerous side effects influencing the quality of life may potentially limit their clinical use. Therefore, we decided to carry out a retrospective analysis of the frequen...

Introduction: Gain of function mutations of RET protooncogene are associated with hereditary medullary thyrpoid cancer. There are mainly specific hot-spot RET gene mutations however they may differ between population.Aim of the study: In this study we report the prevalence of RET mutations in Polish population based on 20 years of experience of referral polish centers.Material and methods: RET ge...

Introduction: Medullary thyroid cancer (MTC), in its familial forms, is usually associated with pheochromocytoma and primary hyperparathyroidism, related to an underlying germline RET mutation. SDHx germline mutations associated with MTC have not yet been reported.Case report: We report the case of a 60-years-old woman, who was submitted, elsewhere, in November/2013, to a total thyroidectomy+right lymph-node dissection due to a nodule s...

Introduction: We report the clinical presentation, immunohistochemistry, imaging, histopathology, treatment and outcome of a patient with ACTH-secreting tumour of liver.Case report: Cushing’s Syndrome due to ectopic ACTH production is uncommon and due to neuroendocrine tumour of liver is extremely rare. We discuss the case of a 27-year-old female who initially presented with vague, non-specific symptoms, such as general and muscle weakness, weight g...

Introduction: Despite advances in analytic and imaging techniques, the syndrome of ectopic ACTH secretion from a tumour resulting in Cushing’s syndrome continues to pose difficult diagnostic and therapeutic challenges. We report a patient with ectopic ACTH from a bronchial carcinoid tumour highlighting the unusual presentation and difficulties in management.Case description: A 23-year-old man with a past medical history of Cushing disease presented ...

Introduction: Acromegaly is usually caused by a pituitary adenoma; ectopic or eutopic secretion of GHRH is a rare condition, responsible for <1% of the cases. Ectopic secretion of GH itself is even rarer.Case report: A 34-year-old woman was referred to the Endocrine Clinic with a multinodular goiter. However, on physical examination there were some physical signs of acromegaly: coarsening of facial features, protusion of the lower jaw and thick, oily...

Introduction: Gastroenteropancreatic neuroendocrine tumors have a highly variable presentation, which can range from benign neoplastic growths to rapidly aggressive malignancies. Neuroendocrine carcinomas of the digestive system are relatively rare. The incidence of GEP NEC in Spain is estimated to be 2.5 – five cases per 100 000 inhabitants.Case: We describe the case of a 67-year-old man, previously diagnosed with hypertension and dyslipidemia. He ...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome with autosomal dominant inheritance. It mainly involves the parathyroid glands (90%), the pancreas (60%) and the pituitary (40%). More than 300 different MEN1 germline mutations were already described.Objective: To characterize families with MEN1 followed at the Department of Endocrinology of the University and Hospital Center of Coimbra, Portugal, from 1990 until 2015.<p cl...

Background: Germline heterozygous mutations in the MEN1 gene located on chromosome 11q13, predisposes to the development of tumors in multiple endocrine tissues. The MEN1 gene encodes a protein of 610 amino acid residues, known as menin which is involved in genome stabilization as well as in several steps of cellular division, conferring tumor suppression activity in MEN1-associated target tissues. The three main endocrine tissues affected by tumors in MEN1 are parathyroid (95...

Introduction: Adult nesidioblastosis is a rare entity that has motivated the publication of several case reports, but long-term outcomes are rarely described. Distal or sub-total pancreatectomy is indicated in cases of severe symptoms or lack of response to medical treatment. We report the case of a patient with persistent nesidioblastosis after pancreatectomy keeping under medical treatment for 24 years.Clinical case: Woman currently with 81-years old, ...

Introduction: Insulinomas are pancreatic endocrine tumors originating in the beta cells, characterized by hypoglycemia resulting from insulin hypersecretion.Objectives: To characterize the demography, the clinical features, imagiological findings and pathological evaluation of the cases of insulinomas identified in the previous 35 years at São João Hospital.Methods: We retrospectively analyzed the cases diagnosed as insul...

Introduction: Aggressive angiomyxoma is a rare, benigne, misdiagnosed tumor that occurs preferentially in women during the reproductive age.Case report: We present a 43-year-old Caucasin woman diagnosed with aggressive multifocal angomyxoma developing for the last 8 years. The patient underwent five surgical procedures during this period of time in order to debulk the pelvis and subperitoneal space of a large invasive tumor. The last surgical approach re...

Introduction: Pheochromocytoma is a rare catecholamine-secreting tumor that arises from the chromaffin tissue of the adrenal medulla. Of the reported cases, only 10% consist in bilateral lesions and the probability of multiple endocrine neoplasia should always be investigated.Clinical case: Female patient, 19 years old, presented with a clinical history with 2 years of evolution, characterized by episodes of palpitations, headache, nausea and abdominal d...

Introduction: Pheochromocytomas are adrenomedullary catecholamine-secreting tumors. These account for <0.1% of all causes of hypertension and may be related to potentially fatal hypertensive crises. Can appear as sporadic tumors or associated with familial syndromes.Malignancy occurs in 15–20% of the cases and is characterized by local invasion or distant metastasis rather than capsular invasion. Tumor recurrence has been reported with a frequen...

Introduction: In most cases, adrenal incidentalomas are non-functioning adrenocortical adenomas, but may also represent conditions in which therapeutic intervention is essential, such as pheochromocytomas, even with low index of suspicion.Case reports: Case report 1. Fifty-three-year-old male with history of arterial hypertension (HT), type 2 diabetes Mellitus and myocardial infarction, with a right adrenal incidentaloma found in abdomi...

Introduction: Pituicytoma is a low-grade glioma of the suprasellar and sellar regions that is rarely described (about 60 cases described in the literature). The clinical, laboratory and neuroradiological findings are not pathognomonic, and therefore definitive diagnosis is only possible after surgery and histopathological study. Total resection is the treatment of choice, since subtotal removal can often lead to recurrence or progression.Case report: We ...

Background: The development of thyroid dysfunction is a frequent side effect associated to sunitinib therapy but scanty data are available on thyroid function on long-term sunitinib-treated patients.Objective: Prospective evaluation of 28 patients suffering from mRCC treated with sunitinib, enrolled between September 2013 and October 2015. 28 patients (24 men and 3 women (median age 57.7, range 51–77)) with comparable tumor staging, normal thyroid f...

Introduction: In this report, we describe a rare coexistence of a multifocal papillary thyroid (micro)carcinoma and aldosterone-producing adenoma.Case presentation: A 60-year-old man attended our clinic with a mass in the right adrenal gland was identified during the work-up in 2007. The patient presented complaints on anxiety, tachycardia, and arterial hypertension. He had several episodes of severe hypertension (220/120 mmHg) while sleeping. In 2014, a...

Prostate cancer (PC), the most commonly diagnosed malignancy among men, is a complex and heterogeneous disease that is highly influenced by the endocrine environment, which makes difficult the identification of novel therapeutic biomarkers to treat this pathology. Somatostatin (SST) is a pleiotropic neuropeptide that exerts its multiple biological functions, including tumor cell regulation, through a family of receptors (named sst1-5). Particularly, in this study we have found...

Obesity (Ob) is a chronic endocrine-metabolic disease and one of the most serious and complex threats for the human health, which is associated with an increased incidence of some types of cancers such as prostate cancer (PC), the second most common cancer in men worldwide. Interestingly, metformin (Met), an antidiabetic drug, might represents a very promising opportunity to treat Ob and PC as some retrospective clinical studies have shown that the incidence of PC is lower in ...