Abstract library

33 results for "familial MTC".
#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
#631 Genotype – Phenotype Correlations and Timing of Prophylactic Thyroidectomy in Patients with Familial Medullary Thyroid Carcinoma
Introduction: Recommendations on the timing of prophylactic thyroidectomy (PTTE) in patients with familial medullary carcinoma (FMTC) are based on classification of RET mutations into four risk levels (ATA 2009).
Conference: 10th Annual ENETS Conference (2013)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: prof. MD, PhD Jan Podoba
#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
#1579 Establishment and Characterization of a Continuous Cell Line from a Human Familial Medullary Thyroid Carcinoma
Introduction: introduction missing
Conference: 13th Annual ENETS conference (2016)
Category: ...none of the above
Presenting Author: Roswitha Pfragner
#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
#1461 Whole Exome Sequencing of Three Families with Small Intestine Neuroendocrine Tumors
Introduction: Small intestine neuroendocrine tumors (siNETs) are the most prevalent small intestine neoplasms. However, familial siNETs are rarely described.
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Matthias Beyens
#271 A Novel Missense Mutation of the TMEM127 Gene that Leads to Pheochromocytoma Phenotype
Introduction: Recently, truncating germline mutations in TMEM127 gene have been identified in 30% of familial cases of adrenal pheochromocytoma (PHEO) and in 3% of apparently sporadic cases.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#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