Endocrine Abstracts

Objective: Ectopic adrenocorticotropic hormone (ACTH-ectopic) syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze the clinical, biochemical, and radiological features, management, and treatment outcome of patients with EAS.Methods: It was a retrospective case-record study of 47 patients with EAS. Clinical, biochemical, and radiological features and response to therapy and survival rate ...

Malignant insulinoma is an extremely uncommon tumor (5–10% of insulinomas). It is accompanied by severe hypoglycemia and a short life expectancy (survival at 10 years <10%). Its clinical management is complex and constitutes a real therapeutic challenge. So far, the experience of radionuclide treatment in these tumors is scarce. We report the case of a 51-year-old woman diagnosed with pancreatic neuroendocrine tumor (pNET) in January 2013. Pre-surgical imaging study b...

Assess the morphology of focal lesions of the adrenal glands after adrenalectomy, compare the results with the nature of the course of hypertension, the level of blood pressure, age, sex of patients.Materials and methods: Forty-four medical maps of patients operated on for focal formations of the adrenal glands were analyzed. The clinical symptoms, the hormonal activity of adrenal gland tumors - the level of cortisol, aldosterone, potassium, sodium, reni...

Adrenocortical carcinoma (ACC) is a rare malignancy. Authors present three cases of even less commonly encountered manifestation of ACC. Case 1: A 39-year-old male, with decompensated hypertension, was admitted to Department of Endocrinology due to a large tumor of the left adrenal gland (65 mm) revealed in the CT of the abdomen. Non-contrast attenuation was 35HU. After performing MRI with chemical shift, tumor was classified as non-adenoma as there was no significant loss of ...

Introduction: Malignant pheochromocytoma (MPheo) is diagnosed by the presence of invasion of adjacent structures or distant metastasis. Predictive factors of malignancy for pheochromocytoma (Pheo) are not well known.Material and methods: We retrospectively analyzed clinical, biochemical, radiological characteristics as predictors for malignancy in patients with Pheo in two Spanish tertiary hospitals during the past 35 years. We also evaluated time of rec...

Adrenocortical carcinomas (ACC) are associated with heterogeneous prognosis and limited treatment options for advanced stages. Until now no efficient targeted therapies have been identified. This study aims to identify possible new molecular drug targets for a future personalized therapeutic approach. We isolated good quality RNA from 40 formalin-fixed paraffin-embedded tumor samples (33 from primary surgery, 5 from local recurrences and 2 from distant metastasis) of ACC patie...

Background and objectives: The role of adjuvant mitotane therapy after radical surgery for adrenocortical carcinoma (ACC) is still debated. The aim of our study is to assess the effects of adjuvant mitotane on recurrence free survival (RFS) and overall survival (OS) in non-metastatic ACC patients and to evaluate prognostic factors in adjuvant setting.Methods: Retrospective data were collected from 152 patients affected by ACC (stage I-III) referred to ou...

Background: Adrenal cortical carcinoma (ACC) is a rare malignancy known to be highly aggressive, with few specific treatment options. The objective was to evaluate clinicopathological features and outcome in patients treated at Helsinki University HospitalMethods and patients: We included all patients diagnosed with adrenocortical carcinoma (Weiss score ≥4) at Helsinki University Hospital during the years 2002 through 2017. Patients were identified...

Introduction: Pheochromocytomas (Pheo) may appear sporadically (SPheo) or as an autosomal dominant inherited disease, named as familial PHEOs (FPheo). The latter are present in younger patients, and usually with multiple tumors, but may occur in patients with apparently simple sporadic tumors with no other syndromic features.Material and methods: Clinical data of all consecutive patients underwent surgery for Pheo over 35 years in two tertiary referral c...

Background: Adrenocortical carcinoma (ACC) is a rare and aggressive neoplasm with a 5-year survival rate <30%. Survival depends mainly on the stage at diagnosis, being surgery the only curative treatment.Objective: To report the clinical features, management and outcomes of a series of ACC in two Spanish tertiary hospitals.Material and methods: All patients with pathological diagnosis of ACC between 2000 and 2017 were included ...

Introduction: The non-insulinoma pancreatogenous hypoglycemia syndrome (NIPHS) identifies a group of hyperinsulinemic hypoglycemic patients with unique clinical, diagnostic, surgical, and pathologic features. A selective arterial calcium stimulation test (SACST) with hepatic venous sampling can be performed to distinguish between a focal abnormality (insulinoma) and a diffuse process (islet-cell hypertrophy/nesidioblastosis). In patients with insulinoma, the response is positi...

Background: Insulinoma is a rare pancreatic neuroendocrine tumor but a life-threatening condition if untreated. Surgical resection is the standard of care with a high cure rate for benign insulinomas but complications can occur in nearly 30% of cases. New non-surgical mini-invasive ablative therapies can be considered in patients with benign insulinoma who are either unfit for surgery or refuse it, although current data are scarce and long-term outcomes are unknown.<p clas...

Introduction: Adrenal venous sampling (AVS) is considered the reference standard to select patients with unilateral aldosterone producing adenoma for adrenalectomy. Recent studies debated the “mandatory” need for AVS before adrenalectomy. We report our experience from a tertiary hospital in Asia on the treatment outcomes of patients with primary aldosteronism (PA) who underwent adrenalectomy without AVS compared to those who had successful AVS....

The objective of the study was to evaluate the prevalence of secreting profile among a series of subjects with incidental discovered adrenal tumors. Subjects. 139 subjects (112 women and 27 men) diagnosed with adrenal tumors between 2010 and 2015 in our department.Methods: Medical records were retrospectively analysed for demographic data, routine tests, specific adrenal hormones measurements, associated diseases.Results: Regarding...

Introduction: Pheochromocytoma (Pheo) and paragangliomas (PGL) are rare catecholamine-producing tumors.Near 35% of patients have disease-causing germline mutations.10% are malignant although the malignancy rate differs accordingly to the genetic background.Purpose: This study aims to characterize the sample of patients followed on a tertiary Portuguese Center and associate the presence of genetic mutation with clinical presentation.<p class="abstext"...

Introduction: Pheochromocytomas and paragangliomas (Pheo/PGL) are rare neuroendocrine tumours arising from the adrenal medulla or the symphathetic paraganglia, respectively. Germline mutations are present in ~40% of the patients. To date, at least 16 genes have been demonstrated to be involved in the genetic background of Pheo/PGL. Prioritization in order of genes tested can be applied, but if the probability of a disease-associated germline mutation exceeds 10% the testing of...

Objective: Multiple endocrine neoplasia type 1 (MEN1) is a rare heritable tumor syndrome caused by germline mutations of MEN1 gene affecting mainly the parathyroid, pituitary and pancreas. Phenotype varies widely, even in first-degree relatives. Recently it has been shown that functionally active gastroenteropancreatic neuroendocrine tumors (GEP-NETs), initially frequently diagnosed as sporadic cases, lead to MEN1 diagnosis. Non-functioning tumors are increasingly rec...

Introduction: Mitotane-o’p-DDD belongs to insecticides (DDT pesticide contamination), it is the only drug registered by the FDA in treatment in adrenocortical carcinoma (ACC). Treatment effect is controled by mitotane concentration in the blood.Aim: The aim of the study is to evaluate the effectiveness of mitotane treatment in patients with adrenocortical cancer.Material and methods: We retrospectively reviewed data on ACC pat...

Purpose: Adrenal cancers are relatively rare, but they have poor prognosis. IGF2 has been confirmed as a factor of adrenal tumors development. Recent data indicate that ghrelin may be an essential factor in cancerogenesis. The aim of our study was to assess ghrelin expression in adrenal tumors, and to investigate the relationship between ghrelin, IGF2 and the clinicopathological characteristics. We also investigated the influence of ghrelin on adenocarcinoma cell line prolifer...

Background: Temozolomide (TMZ) has been suggested as a treatment option for patients with pancreatic neuroendocrine tumours (PNETs). The tumour response to TMZ has been linked to expression levels of O6-methylguanine-DNA methyltransferase (MGMT) and components of the mismatch repair (MMR) system. However, there is no in vitro data on TMZ sensitivity and the expression of MGMT and MMR components in PNETs. Moreover, the effect of TMZ exposure on chemosensitivity and exp...

Introduction: The NETTER 1 trial resulted in markedly longer progression-free survival (PFS), with preliminary evidence of an overall survival benefit. We report the results of PFS and safety of (177Lu)-DOTATATE in patients treated in our hospital between 2014 and 2017.Methods: Transversal and descriptive study of 22 patients with advanced, progressive, somatostatin receptor-positive tumors who had received previous treatments. All of them were treated w...

Background: The prevalence of small intestine neuroendocrine tumors (SI-NETs) is increasing. Disease progression is often slow, treatment options and long-term survival rates have improved. Health-related quality of life (HRQoL) is considered an important measure of patients’ perception of the burden of their disease and the impact of treatment modalities. Despite this, data on whether improvements in treatment options and survival rates also translate into improved HRQoL...

Introduction: Streptozotocin (SZ) is an active drug for the treatment of advanced adrenocortical carcinoma (ACC) in a minority of patients with an objective response rate of <10%. It has been reported that expression of glucose transporter-2 (GLUT-2) is essential for SZ to enter tumor cells and that high activity of O-6-methylguanine-DNA methyltransferase (MGMT) counteracts the alkylating effect of SZ. Therefore, we aimed to clarify the role of GLUT-2 and MGMT in the respo...

Pancreatic neuroendocrine tumors (panNETs) are the second most common neoplasm of the pancreas. panNETs arise from cells of the pancreatic islets and comprise a diverse and heterogeneous group of neoplasms. This hampers their systematic study, and the identification of common molecular signatures that might facilitate a better diagnosis of the disease, and the development of efficient therapeutic approaches. Indeed, there are no clinical, biochemical, anatomopathological, immu...

Introduction: Adrenocortical carcinoma (ACC) is a rare, aggressive tumour with unsatisfactory treatment options in advanced disease. Activation of epithelial to mesenchymal transition (EMT) has been described as causative of metastatic spread in a variety of human cancers. Accordingly, new drugs were developed specifically targeting EMT with a focus on HGF/c-MET and FGF/FGFR signalling. We here asked whether EMT is a relevant mechanism in ACC.Methods: Ex...

Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome, affecting multiple endocrine glands whose natural history remains largely unknown. Aim of this study was to assess the epidemiological and clinical profile of MEN1 in a single center. Seventy-three MEN1 patients, belonging to 30 different families, referred at the NET Center of Naples, from 2000 to 2017, were evaluated. Male/female ratio was 0.73, mean age 43 years (range 10–86). Forty-six cases (64%) we...

Glioblastoma (GB) is the most aggressive primary brain tumor, the survival rate is low because of a high prevalence of recidives. The incidence of GB in the adult population is 50% higher in men than in women, which suggest a role of steroid hormones in it is development. Information on GB as a steroidogenic tissue is poor. The objectives of this study were: 1, to investigate the capacity of a human GB cell line to synthesize sex steroids and corticosteroid metabolites, and 2,...

Introduction: Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumors arising from neuroendocrine cells in the endocrine and central nervous system, the natural history of which remains inadequately understood. Large epidemiological studies are gradually emerging from different countries worldwide, which contribute to the establishment of a spherical view about these tumors. The purpose of this study is to evaluate the epidemiological, clinical and pathological cha...

Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with an incidence of 1 in 2600 to 3000 individuals. Patients with this disorder are characterized by multiple neurofibromas, caf-au-lait macules, axillary freckling, optic gliomas, iris hamartomas, and skeletal abnormalities. Overall risk of developing neoplasms is approximately 2 to 4-fold higher in patients with NF1, with a risk of malignancy estimated between 5 and 15%. Endocrinopathies are some...

Mutations in the RET gene are responsible for Multiple Endocrine Neoplasia type 2A (MEN2A), characterised by Medullary Thyroid Carcinoma (MTC) and Pheochromocytoma (PCC). It is well recognised that there is a genotype-phenotype correlation regarding likelihood of endocrine tumour development. The American Thyroid Association (ATA) has published predictive grading to guide clinical management of patients with RET mutations.Aim: In this study, we aim to as...

Introduction: Multi-modal therapy for adrenocortical carcinoma (ACC) includes surgery, therapy with the adrenolytic agent mitotane and systemic chemotherapy. Achievement of therapeutic mitotane concentrations (≥14 mg/l) has been related to improved outcomes.Aim: To evaluate the effectiveness of a defined* high dose protocol mitotane therapy in patients with advanced ACC (stages III and IV).Methods: Review of patients presenti...

Introduction: Neuroendocrine neoplasms (NENs) have variable biological behavior but the majority exhibits a slow progression. Metastatic bone disease (mBD) in NENs is relatively uncommon and not well described albeit associated with an increased mortality.Methods: Seventy-four [37 males (50%), aged(±S.D.) 60.2±19.3] patients with NENs and bone metastases were recruited from 4 centers.Results: Seventy-three ...

Introduction: Neuroendocrine neoplasms (NENs) exhibit significant heterogeneity in growth rates. Clinical and histopathological dedifferentiation has been documented but their clinical characteristics have not been described.Aim of the study: The identification of clinical features of a series of pancreatic NENs (pNENs) that developed dedifferentiation during their course.Methods: Fourteen patients (eight males) with mean age(&#177...

Background: The aim of the study was to assess the clinical features of gastric neuroendocrine neoplasms type 1 (GNEN1).Methods: We have analyzed the clinical data of the first 73 patients with GNEN1 from our registry.Results: The mean age(±S.D.) of the patients (51 (68.9%) females) and the mean follow-up were 55±12.3 years and 28.8±42.2months, respectively. All patients had sporadic tumors and all wer...