Abstract library

35 results for "Hereditary PanNET".
#1253 A Novel Hereditary Pancreatic Neuroendocrine Tumor Syndrome Associated with Biallelic Inactivation of the Glucagon Receptor
Introduction: Hereditary pancreatic neuroendocrine tumors (PanNETs) are associated with 4 known autosomal dominant syndromes including MEN1, vHL disease, NF1, and TS. Glucagon receptor (GCGR) inactivation in human (Mahvash disease) has been associated with asymptomatic hyperglucagonemia, α-cell hyperplasia, and PanNET, and may represent a new hereditary syndrome.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr. Laura Tang
Authors: Tang L, Yu R
#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
#194 Pancreatic Neuroendocrine Tumors: Experience of Endocrinology Department of the University Hospital of Coimbra
Introduction: Pancreatic neuroendocrine tumors (PNETs) are uncommon neoplasms, comprising 1-2% of all pancreatic tumors. The majority are nonfunctional. Of the functional tumors, insulinomas are the most common.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Dr Alexandra Vieira
Authors: Vieira A, Santos J, Gomes L, Moreira A, ...
#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
#419 Morphological Characteristics of Pancreatic Tumors in Children and Young Patients
Introduction: Pancreatic tumors (PT) usually occur after age 60 and almost never in children and young patients (pts). Little is known concerning frequency, morphological and immunohistochemical (IHC) characteristics of PTs in children and young pts.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: I Voronkova
#22 A Case Illustrative of Phenotypic Heterogeneity and Challenges in the Management of Paraganglioma
Introduction: Paragangliomas (PGLs) are extra-adrenal, usually benign, highly vascularized tumors that originate from neural-crest-derived chromaffin cells. These tumors are subdivided as either sympathetic or parasympathetic, depending on their location and catecholamine production. Sympathetic PGLs are situated along the abdominal sympathetic trunk and usually produce catecholamines, whereas parasympathetic PGLs are located in the head and neck, and these usually do not produce catecholamines. PGLs may present as sporadic or inherited tumor syndrome, including MEN 2, with RET germline mutations, von Hippel-Lindau (VHL) disease due to germline mutations in VHL gene, and pheochromocytoma-PGL syndrome. The latter is frequently a hereditary condition and is caused by germline mutations in the SDHB, SDHC, or SDHC genes. Patients with familial PGLs may present at a younger age, often as multifocal tumors, with an increased risk of recurrence and a higher frequency of malignancy in those with SDHB mutations. SDH mutations induce angiogenesis and tumorogenesis through the inhibition of hypoxia-inducible factors (HIF)-propyl hyroxylase. A younger age at onset, malignancy, and a positive family history are clinical parameters of high specificity, but low sensitivity for diagnosis. Genetic analysis for mutations in SDH genes for the patient and family members, and surveillance for the affected patient and family members, are necessary where there are no clear clinical or family indicators for the syndrome. We present a case of a large abdominal malignant PGL in a 20-year-old pt. that went on without clinical detection for at least three years.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Mohammed Ahmed
#1180 A Novel Human Cell Line from Familial Medullary Thyroid Carcinoma
Introduction: Cell lines from hereditary medullary thyroid carcinomas (MTC) are very rare, therefore, there is a substantial need to establish new cell lines. Here, we present a novel familial MTC (FMTC) cell line, designated SCHWE.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Roswitha Pfragner
#246 SDHB Loss Predicts Malignancy in Pheochromocytomas/Sympathethic Paragangliomas, but Not Through Hypoxia Signalling
Introduction: To date there is no reliable histopathological marker of malignancy for pheochromocytomas/sympathetic paragangliomas (PCC/PGL). It is well-known that PCC/PGL in the hereditary context of an SDHB germline mutation very often metastasize. The immunohistochemical loss of SDHB expression was recently shown to be a surrogate marker for the presence of an SDH germline mutation in PCC/PGL. SDHB loss is supposed to be tumorigenic via activation of hypoxia signals.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dr Anja M Schmitt
#328 Report of Two First-Degree Relatives with Appendix Carcinoid and Review of the Literature
Introduction: Appendix endocrine tumors have an incidence of 2-3 patient/millon/year. They are more common in women, diagnosed incidentally during appendectomies.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Claudia Bestani
#348 Management of Multiple Endocrine Neoplasia Type 1 in Patients with Pancreatic Neuroendocrine Tumors
Introduction: Screening for MEN-1 is an integral part of examination of patients with pNETs because revelation of this hereditary pathology radically influences tactics of treatment.
Conference:
Category: Basic
Presenting Author: Ivan Vasiliev