Abstract library

37 results for "familial".
#2737 Identification of a Novel MAFA Missense Mutation Causing Familial Insulinomatosis
Introduction: Insulinomatosis is a rare pancreatic disease characterized by an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: PD. Dr. Christian Fottner
#2960 Epidemiological Characteristics of Neuroendocrine Tumors: A Retrospective Analysis of a Single Centre
Introduction: Neuroendocrine tumors (NETs) are a small heterogeneous group of cancers, developing from the neuroendocrine system. NETs may include functional or non-functional tumors; moreover, they may be familial and have further associated tumors.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: Ivana Puliafito
#3065 Intensive Personalized Program for Daily Living with Neuroendocrine Neoplasms as a Chronic Disease: Preliminary Results
Introduction: Introduction: Neuroendocrine neoplasms (NENs) are increasingly viewed as chronic diseases as a result of more effective treatments and procedures. As with any life changing events, patient and family transition to a new “normal” requires attitudinal adjustments. The Intensive Personalized Program for Daily Living with Neuroendocrine Neoplasms is a pilot program transitioning patients and their primary familial carer to a new “normal”.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Medical treatment - others, not specified
Presenting Author: Mike Rosenberg
#3090 Retrospective Experience with Pherochromocytoma (PH) and Paraganglioma (PG) in a Single Argentinian Institution
Introduction: Pherochromocytoma (PH) and paraganglioma (PG) are neuroendocrine tumors arising in cromaffin cells in the adrenal medulla or extra adrenal paraganglia respectively. Clinical presentation is diverse. All PG/PH have malignant potential. Hereditary cases comprise up to 40% of all PG/PH.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Endocrine malignancies (MTC, pheochromocytoma) - diagnosis and therapy
Presenting Author: MD Mariano Hernan Dioca
#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
#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
#48 Preliminary report of the use of everolimus in a patient with progressive medullary thyroid carcinoma
Introduction: Medullary thyroid carcinoma (MTC) accounts for about 5-10% of all thyroid cancers, and while disease localized to the thyroid can be cured by surgery, there is no effective treatment for disseminated MTC. Constitutive activation of the RET proto-oncogene is implicated in familial and a proportion of sporadic cases, and up-regulates the AKT/PI3-kinase/mTOR signal transduction pathway. Recent studies have shown that the inhibitor of mTOR, everolimus (RAD001, Novartis, Basel), can inhibit the proliferation of the TT cell line and human MTC tumor cells in vitro. Clinically, everolimus has been shown to attenuate the progression of some gastrointestinal neuroendocrine tumors, but its clinical use in MTC has not yet been evaluated.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Maralyn R Druce
#89 Hyperplasia-adenoma sequence in pituitary carcinogenesis: new insight into the role of AIP gene
Introduction: Pituitary adenoma predisposition has been recently associated with germline mutations in the Aryl-Hydrocarbon Receptor Interacting Protein (AIP) gene. This association has been detected in familial and, more rarely, in sporadic cases. The mechanisms by which the AIP mutations promote pituitary adenoma development remain unknown.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MD Chiara Villa
#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: Emilio Bajetta
#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