Endocrine Abstracts

Context: Surgical intervention is advised in patients with multiple endocrine neoplasia type-1 (MEN-1) with non-functioning pancreatic neuroendocrine tumors (PanNET) and a size ≥20 mm. However, functioning PanNET such as patients with endogenous hyperinsulinemic hypoglycemia (EHH) due to (one or multiple) insulinomas should be treated surgically independent of size. Reliable preoperative localization of insulinomas is critical for surgical strategy.<p class="abstext"...

Background & Aim: Pancreatic neuroendocrine tumors (pNETs) are detected in >80% of MEN1 patients. MEN1 pNETs are well differentiated G1-G2 NETs. They are usually not surged unless a size >1–2 cm or a growth rate >0.5 cm per year. Somatostatin analogues represent one of the main therapeutic option in patients affected with G1-G2 NETs. However, neither somatostatin analogues nor other therapies have been prospectively evaluated in clinical trials specificall...

Introduction: The histologic classification of lung carcinoids (LCs) as typical (TCs) and atypical (ACs) highlights its role as major prognostic factor for these patients. However, in the absence of sensitive biomarkers to effectively predict tumor behavior, long-term imaging surveillance is recommended for disease monitoring. Limited data suggest that progastrin-releasing peptide (ProGRP) may have diagnostic & monitoring utility in LCs.Aim(s): To ev...

Introduction: The obstructive sleep apnea syndrome (OSAS) has a well-documented association with increase cardiovascular morbidity and mortality. The patients with OSAS have a high prevalence of hypertension and the OSAS may present similar to a pseudo-pheochromocytoma (PPH). We report two cases with PPH caused by OSAS; a common medical condition which is less recognized as a cause of raised catecholamines.Observations: Case 1: 54 year-old man had a hist...

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors derived from chromaffin cells of the adrenal medulla and paraganglia of the autonomic nervous system, respectively. Despite a common origin, these tumors are quite heterogeneous in terms of driver mutations, copy number alterations and activated downstream-signaling pathways. Genome wide expression analysis has identified at least three main tumor clusters: a pseudo-hypoxic cluster, one with activation ...

Introduction: The capability of cancer to accommodate to special metabolic circumstances is a hallmark of it’s existence. Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine tumors with strong and specific metabolic phenotype due to mutations of genes encoding succinate dehydrogenase (SDH) subunits. In this study our aim was to evaluate the expression of glutaminase-1 in hereditary Pheo/PGL tissues and to inhibit SDH activity via pharmacological treatments ...

CDC73 (also known as HRPT2) encodes parafibromin and is known to be the causative gene of hyperparathyroidism-jaw tumor (HPT-JT) syndrome. There is no known ubiquitination of parafibromin, and the deubiquitinating enzyme (DUB) for parafibromin has not been identified to date. Full-length DUB cDNAs encoding 58 family members of ubiquitin specific proteases (USPs) were subcloned. The DUB cDNA was used to identify parafibromin interacting by yeast two-hybrid screening. W...

Introduction: The importance of highly sensitive screening tests for pheochromocytoma/paragnaglioma (PPGL) is clear. However, a low level of specificity may lead to unnecessary biochemical and imaging investigations and even to needless surgical procedures. Therefore, in patients with elevated values of metanephrines, it is essential to establish a rational threshold for performing prompt thorough diagnostic investigations rather than opting for active surveillance.<p clas...

Introduction: IGF-1 overexpression has been associated with tumorigenesis. IGF-1Ea, IGF-1Eb and IGF-1Ec isoforms were shown to be regulated differently in cancer. IGF-1Ec and IGF-1Eb overexpression has been positively associated with cell survival and proliferation in various tumors. Elevated IGF1Eb/IGF-1Ea ratio has been suggested as a biomarker of cervical cancer prognosis. Herein, we aimed to examine the expression of IGF-1 isoforms in human adrenocortical carcinomas (ACCs)...

Phaeochromocytoma is a catecholamine producing tumour arising from the adrenomedullary chromaffin cells. It produces hormones such as epinephrine, norepinephrine, catecholamine and dopamine. (1) There have been some case reports describing an association between Brown adipose tissue (BAT) accumulation due to catecholamine excess caused by a phaeochromocytoma. We present a similar case in this abstract. A 77 year old lady was referred to the community geriatricians with symptom...

Background: The diagnostic process to unveil the underlying cause of endogenous Cushing’s syndrome (CS) is often challenging. Sometimes, atypical manifestation of the disease or only periodic hypercortisolaemia with spontaneous resolutions are observed and make the diagnosis even more difficult. Although it is common in primary pigmented nodular adrenocortical disease (PPNAD), pituitary corticotroph adenoma can manifest itself as cyclic Cushing’s syndrome as well.</p...

Oncocytic adrenocortical neoplasm (OAN) represents a rare variant of adrenocortical carcinoma (ACC) with less than 150 cases reported in the literature. OANs account for 1.8% of adrenal masses, predominantly in adults and usually presenting as large tumors featuring hormonal secretion in 20% of cases. Accurate histological characterization of OANs is crucial as this subtype is believed to be more indolent in clinical behavior. There are 3 categories of OANs: pure oncocytic, mi...

Introduction: Adrenal Cushing due to bilateral multiple adrenal tumors known as Primary Pigmented Nodular Adrenocortical Disease (PPNAD) can be observed in the multiple neoplasia syndrome Carney Complex or as an isolated disease. In both situations germline inactivating mutations of PRKAR1A (regulatory subunit R1A of PKA) can be observed. The loss of PKA R1A results in an increased PKA activity. Comparison of the transcriptome of PPNAD and stably transfected H295R adr...

Introduction: EUS-RFA is rapidly emerging as a possible treatment alternative for patients with pNENs who are poor surgical candidates.Aim(s): To summarize our experience in terms of feasibility, safety and efficacy of EUS-RFA in a cohort of patients with functional and non-functional pNENs.Materials and methods: Retrospective case series of pNENs patients treated with EUS-RFA at two tertiary referral centers in Israel between Marc...