Abstract library

784 results for "family case".
#2166 A Family Bronchial Carcinoid Tumor.
Introduction: Typical and atypical bronchial carcinoids are neuroendocrine tumors of the lung. Family lung carcinoid tumors are rare and have been described as very rarely in literature.
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Pr Bezzar-Ghomari Soumeyya
#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
#495 Risk Factors for Sporadic Pancreatic Neuroendocrine Tumors (PNETs): Updated Results From a Single-Center Case Control Study
Introduction: PNETs are uncommon and little is known about risk factors and association with other cancers.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: Dr. Thorvardur Halfdanarson
#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, ...
#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
#829 On the Benign Side of Malignancy: How Neuroendocrine Tumors are Experienced by Patients and Their Family Carers
Introduction: Neuroendocrine tumors (NETs) are rare, slow-growing neoplasia with variable clinical presentations. Due to their non-specific symptoms and a lack of diagnostic tools, late diagnosis is common. There is little research relating to NETs as experienced by both patients and family carers.
Conference: 11th Annual ENETS Conference (2014)
Category: ...none of the below
Presenting Author: Susanne Kall
Authors: Kall S, Spichiger E, Stoll H, ...
#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
#914 French Cohort of Familial Midgut Carcinoid Tumors
Introduction: Familial Midgut Carcinoid Tumors (FMCT) are a rare and poorly described entity defined by the occurrence of a midgut carcinoid tumor in at least two first-degree relatives.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: Louis De Mestier
#403 Insulinomas in Children
Introduction: Insulinomas are extremely rare tumors in children and an uncommon first manifestation of MEN1 syndrome. Insulinomas are usually benign tumors with only a few reports of malignant cases in children.
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: MD Maria Melikian
Keywords: MEN-1
#1103 Risk and Protective Factors for Midgut Carcinoid Tumours: A Case-Control Study of Prospectively Evaluated Patients
Introduction: The incidence of midgut carcinoid tumours is on the rise, but few studies have investigated risk factors for their occurrence.
Conference: 12th Annual ENETS Conference (2015)
Category: Epidemiology/Natural history/Prognosis - Descriptive epidemiology
Presenting Author: Doctor Maria Rinzivillo