Abstract library

68 results for "hereditary syndromes".
#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, ...
#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
#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
#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, ...
#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
#1050 Recurrent Disease After Curative Pancreatic Resection for Patients with Non-Functional Neuroendocrine Tumor; Identify the High Risk Patient
Introduction: Since the overall favourable survival, detection of recurrent disease is one of the main goals during follow up in patients with resected pancreatic neuroendocrine tumors (pNET).
Conference: 12th Annual ENETS Conference (2015)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Anneke Jilesen
Keywords: NF
#1229 Preliminary Results on the Diagnosis of NETs in Portugal – The Cross Sectional TNE-ETC Survey
Introduction: NETs are increasing worldwide. Epidemiological data is lacking in Portugal. The NETs Study Group of the Portuguese Endocrine Society is committed to develop a National Registry.
Conference: 12th Annual ENETS Conference (2015)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: MD, MSc Ana P Santos
Keywords: Portugal NET
#1663 Development of Neuroendocrine Tumors in Patients with a Family History of NET or Any Other Cancer
Introduction: Neuroendocrine tumors are rare. A very little knowledge is known about its risk factors. Studies have shown that NETs may develop as a part of hereditary syndromes.
Conference: 14th Annual ENETS conference (2017)
Category: Basic Science - Genetics, epigenetics, miRNAs, Omics
Presenting Author: Dr Arooj Fatima
Authors: Fatima A, Zaidi S S A, ...
#1674 Meta-Analysis of Recurrence after Curative Surgery of Pancreatic Neuroendocrine Tumors.
Introduction: Follow-up after curative surgery for pancreatic neuroendocrine tumors (pNET) is designed to detect recurrence, however reliable recurrence rates are difficult to deduct from literature. Without this knowledge, appropriate follow-up regimens and indications for adjuvant treatment remain unclear.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: M.D. Cansu Genc
#1677 A New Scoring System to Predict Recurrent Disease in Grade 1 and 2 Non-Functional Pancreatic Neuroendocrine Tumors.
Introduction: Surgical resection is the preferred treatment for NF-pNET, however recurrence still occurs frequently after curative surgery, worsening prognosis of patients.
Conference: 14th Annual ENETS conference (2017)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: M.D. Cansu Genc