Abstract library

71 results for "familial syndromes".
#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.
Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Julia Krupinova
#2191 Endocrine Paraneoplastic Syndromes in Patients with Neuroendocrine Neoplasms
Introduction: Endocrine paraneoplastic syndromes (ePNS) result from production of bioactive substances from tumours not related to their expected tissue of origin. Neuroendocrine neoplasms (NENs) have been associated with ectopic secretion of several hormones, but the prevalence of ePNS has only been described in a small number of studies.
Conference: 15th Annual ENETS conference (2018)
Category: Epidemiology/Natural history/Prognosis- Registries, nationwide and regional surveys
Presenting Author: Eleftherios Chatzellis
#861 Targeted Next Generation Sequencing in the Screening for Familial Neuroendocrine Tumor Syndromes: A Tool for Personalized Medicine
Introduction: Multiple syndromes are described as conferring susceptibility to NETs; MEN1 & 2, NF1, familial PGL 1-5, TSC, VHL and germline mutations in the HIF2A, MAX, or TMEM127. Genetic testing covering these diagnoses may be extensively resource-demanding using traditional techniques due to the large extent of these loci.
Conference: 11th Annual ENETS Conference (2014)
Category: Biomarkers
Presenting Author: Joakim Crona
#40 Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients
Introduction: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, and with variable biological behavior. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the development of tumors.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Antongiulio Faggiano
#1704 Diffusion Weighted Imaging as a Screening Tool in the Detection and Monitoring of Pancreatic Neuroendocrine Tumours in Patients with Familial Cancer Syndromes.
Introduction: Pancreatic neuroendocrine tumours (PNETs) occur at a higher frequency and at a younger age in patients with certain genetic conditions e.g. Von Hippel Lindau and Multiple Endocrine Neoplasia type 1. Screening for early detection and monitoring growth rates of PNETs in these high risk patients is vital in their management. MRI has emerged as the gold standard for imaging the pancreas for the detection of PNETs and diffusion weighted imaging (DWI) has become an invaluable adjunct.
Conference: 14th Annual ENETS conference (2017)
Category: Imaging (radiology, nuclear medicine, endoscopy)
Presenting Author: Dr Carys Jenkins
Authors: Jenkins C, Thomas W, Parry C, Khan M, ...
Keywords: PNET, MRI, VHL, MEN1
#125 Ectopic hormone secreting phaeochromocytoma: A francophone observational study
Introduction: Ectopic hormone-secreting phaeochromocytomas are rare and only small reports of 1-2 cases exist in the literature. In the past, this condition has been linked with increased malignancy, familial syndromes and ACTH secretion.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Prof Bruno Carnaille
#262 Changes on Chromosome 18 are Involved in Sporadic and Familial Ileal Carcinoid Tumor Development
Introduction: Small intestine neuroendocrine tumors (ileal carcinoid) is generally considered a sporadic disease. We have identified nine families with an ileal carcinoid tumor diagnosed in two or more individuals.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Professor Eva Tiensuu Janson
#398 Ileal GEP-NEN in Mother and Son – Option for Familial Disease
Introduction: Familial cases of ileal GEP-NEN have been described on some few occasions in the literature. Speculations of familial disease with or without a relationship to MEN-1 or other inherited endocrine neoplasias have been made
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: MD, PhD Joakim Hennings
#883 Primary Hepatic Neuroendocrine Tumors: Four Familial Case Series with Review of Literature
Introduction: Non-multiple endocrine neoplasia (MEN) familial neuroendocrine tumors (NET) are very rare with only six families being described to date. Primary hepatic neuroendocrine tumors (PHNETs) are rare tumors with a particular sporadic diagnosis. Herein, we report a series of four members of one Lebanese family, diagnosed with primary hepatic neuroendocrine tumors.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: Dr Rita E Assi
#895 Determination of a Prognostic Classification System in Metastatic Grade 1 and 2 Pancreatic Neuroendocrine Tumors (PNETs)
Introduction: There is no clinical prognostic risk stratification tool available for metastatic grade 1 and 2 PNETs, which are a heterogeneous group.
Conference: 11th Annual ENETS Conference (2014)
Category: Pathology, grading, staging
Presenting Author: MD Julen Fernández Plana