Identification of Hypoxia Induced Epigenetic Changes in the Development of Pancreatic Neuroendocrine Tumors Abstract #969

Introduction: In VHL syndrome, pancreatic NETs develop through bi-allelic inactivation of VHL with subsequent HIF pathway activation. This also occurs in sporadic pancreatic NETs.
Aim(s): We sought to determine the epigenetic modifications occurring in VHL-related tumorigenesis in PNETs.
Materials and methods: VHL knockdown in the human pancreatic NET cell line BON1 was carried out by lentiviral transduction. Cells were cultured in normoxic and hypoxic [1% O2] conditions for 1, 4, 8, 16, 48, 72 and 168 hrs. Genome-wide methylation analysis was performed using Infinium HumanMethylation450 Arrays and gene expression analysis was performed using Illumina HT12 arrays.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Harpreet K Dibra

To read results and conclusion, please login ...

Further abstracts you may be interested in

#3071 Hormonal Ectopic Secretion Syndromes Associated to Neuroendocine Neoplasia
Introduction: Neuroendocrine neoplasias (NEN) are able to produce and secrete bioactive peptides and cause distinct syndromes related to their biological effects. The outcome will depend on the oncological disease as well as the hormonal syndrome
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Biomarkers
Presenting Author: MD Julieta Tkatch
#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
#806 Long-Term Prognosis of Pancreatic Neuroendocrine Tumors in Von Hippel-Lindau Disease
Introduction: Management of pancreatic neuroendocrine tumours (PNET) associated with von Hippel-Lindau (VHL) disease is challenging because of their malignant potential and poorly predictable prognosis.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Louis De Mestier
#936 Promoter Hypermethylation at RASSF1 is a Feature of Small Intestinal Neuroendocrine Tumors
Introduction: Promoter hypermethylation of RASSF1 has been reported in many tumor types.
Conference: 11th Annual ENETS Conference 2014 (2014)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr Anna Karpathakis