Hyperplasia-adenoma sequence in pituitary carcinogenesis: new insight into the role of AIP gene Abstract #89

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.
Aim(s): To gain insight into the role sustained by the AIP mutated gene in pituitary carcinogenesis, we performed a comprehensive analysis of loss of heterozygosis (LOH) regarding adenohypophysis, pituitary hyperplasia and adenoma, in the context of a novel germline AIP gene mutation harbored in two young heterozygous twins.
Materials and methods: DNA was extracted from blood and paraffin-embedded pituitary tissues, amplified by PCR. The fragments corresponding to the six exons of the AIP gene were sequenced and matched with the wild type reference.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MD Chiara Villa

To read results and conclusion, please login ...

Further abstracts you may be interested in

#930 Distinct Expression of Splicing Variants of the Human MEN1 (Multiple Endocrine Neoplasia Type 1) Gene in Various Pituitary Adenomas
Introduction: MEN1 is an autosomal-dominant tumor syndrome characterized by the occurrence of tumors in multiple endocrine tissues, including parathyroid, enteropancreatic neuroendocrine and anterior pituitary. The MEN1 gene consists of 10 exons transcribed into a 610 a.a. protein. It was reported that heterogeneity of human MEN1 gene transcripts related to variation in their 5’ UTR. Six distinct exsons1 (e1A-e1F) were isolated using RNA from thymus, pancreas and kidney.
Conference: 11th Annual ENETS Conference (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Atsushi Ozawa
Keywords: MEN1, pituitary
#1315 Genes Involved in Angiogenesis and mTOR Are Frequently Found Mutated in Asian Patients with Pancreatic Neuroendocrine Tumors.
Introduction: There are limited data and inconsistent findings of genetic alteration in pancreatic neuroendocrine tumors (pNET).
Conference: 13th Annual ENETS conference (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: MD Chen Ming-Huang
Authors: Wen-Chi C, Yi-Chen Y, Yi-Ming S, Yee C, ...
#3047 Functional Consequence of β-Arrestin 1 Gene Knock-Out in Pancreatic Neuroendocrine Tumor Cell Line BON-1
Introduction: An important limiting factor influencing treatment efficacy of neuroendocrine tumors (NETs) with somatostatin analogs (SSA) is the availability of somatostatin receptors (SSTR) on NETs. While downregulation or altered pattern of SSTR expression are important considerations, receptor internalization/desensitization by β-arrestins may be a crucial contributing factor. Interestingly, our previous study showed a preferential higher expression of β-arrestin 1 (ARRB1), in gastroenteropancreatic NETS (GEP-NETs) compared to pituitary adenomas.
Conference: 17th Annual ENETS Conference (2020)
Category: Basic Science - Signaling pathways, receptors, biomarkers
Presenting Author: Dr Anand Iyer
#2795 Molecular Correlation of the Activity of Evofosfamide (EVO) in Combination with Sunitinib (SUN) in Pancreatic Neuroendocrine Tumors (pNETs) in the SUNEVO GETNE Trial
Introduction: MEN1, DAXX, ATRX, and PI3K/AKT/mTOR pathway genes are frequently mutated in pNETs. Sunitinib is approved and widely used in the metastatic setting but unfortunately, no validated predictive biomarker has been identified to guide therapy yet. The SUNEVO phase II trial of the Spanish Task Force Group for Neuroendocrine and Endocrine Tumours (GETNE) trial combined the pro-drug of EVO under SUN-induced hypoxic conditions.
Conference: 17th Annual ENETS Conference (2020)
Category: Trials in Progress/Trials in Concept
Presenting Author: Dr. Enrique Grande
#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
Close
Notice

Dear conference participant,

Thank you for participating in the ENETS Virtual Conference 2020!

You now have the opportunity to view the webcasts, abstracts and e-posters via My ENETS. Don't miss on any of the exciting talks and take your time to view the clinical and basic science abstract sessions.

If you require a certificate of attendance, please log into My ENETS and select “Annual Conferences” from the side menu, then click on “My registrations” and select your registration for 2020. Please choose "Certificate o.A." to receive your certificate of attendance.

A note on CME accreditation:

ENETS has been liaising with UEMS regarding CME accreditation for the virtual conference. At present, we do not have a definitive answer. We will keep you updated.

 

Wishing you all the best,

The entire ENETS team