Ileal GEP-NEN in Mother and Son – Option for Familial Disease Abstract #398
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
Aim(s): To describe a case of familial occurrence of ileal GEP-NEN in a woman and her son, both operated within a month at a single institution.
Materials and methods: We report on an 86-year-old woman operated for bowel obstruction with findings of a carcinoid primary tumor in the distal ileum, distal mesenteric lymph node metastases but no liver metastases. A wedge small bowel resection was performed and the recovery was uneventful. Four weeks later her 68-year-old son presented with abdominal pain and was found to have multiple liver metastases on ultrasound examination and a CT-scan showed a typical ileal GEP-NEN with mesenteric lymph node metastases and multiple small liver mets.
Conference: 9th Annual ENETS Conference (2012)
Presenting Author: MD, PhD Joakim Hennings
To read results and conclusion, please login ...
Further abstracts you may be interested in
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
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
#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
#1507 The CDK4/6 Inhibitor Palbociclib Induces Anti-proliferative Mechanisms in Gastroenteropancreatic Neuroendocrine Neoplasms In Vitro
Introduction: Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are rare tumors with heterogeneous molecular backgrounds and mostly unknown druggable driver mutations. Especially for the midgut NENs effective treatment options are limited. The retinoblastoma pathway is often inactive due to CDK4/6 overexpression in pancreatic NENs. Palbociclib is a FDA approved (ER-positive and HER2-negative breast cancer) cyclin-dependent kinases 4 and 6 inhibitor and might impair cell cycle progression and proliferation.
Conference: 13th Annual ENETS conference (2016)
Category: Medical treatment - Targeted therapies
Presenting Author: Franziska Briest
#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)
Presenting Author: Antongiulio Faggiano