Abstract Library

#1478 The Role of p27 in Pheochromocytoma Development

Introduction: The Cdkn1b gene, encoding p27, is a tumor susceptibility gene for multiple endocrine neoplasia syndromes in rats (MENX) and humans (MEN4) with development of pheochromocytoma (PCC), respectively. Recently, it was reported that p27 indirectly regulates gene transcription by associating with transcription factors (TF) and inhibiting gene transcription at specific promoters.

Conference: 13th Annual ENETSConcerence (2016)

Presenting Author: Richter A

Authors: Richter A, Lalli E, Sass S, Pellegata N,

Keywords: pheochromocytoma, p27, ChIP-Seq,

#1100 Cyclin-Dependent Kinase Inhibitor 2A (CDKN2A/P16) Polymorphisms and Risk of Pancreatic Neuroendocrine Tumors

Introduction: Pancreatic neuroendocrine tumors (PNETs) represent only 1% of all pancreatic neoplasms by incidence, but 10% by prevalence. Family history of cancer is the only established risk factor so far. The impact of germline genetic variability on PNET risk is poorly understood.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Canzian F

Authors: Campa D, Rizzato C, Capurso G, Delle Fave G, Gazouli M,

Keywords: pancreatic neuroendocrine tumor, p16, cdkn2a, genetic polymorphisms, SNP, association, susceptibility,

#908 Role of Epithelial-to-Mesenchymal Transition Markers in Predicting Bone and Visceral Metastases from NETs

Introduction: Epithelial-to-mesenchymal transition (EMT) of tumor cells has been recently postulated as a pivotal mechanism driving metastatic spread.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author: Cives M

Authors: Simone V, Cives M, Rizzo F, Bisceglia F, Savonarola A,

Keywords: EMT, biomarker,

#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 ENETSConcerence (2014)

Presenting Author:

Authors: Crona J, Stålberg P, Granberg D, Welin S, Hellman P,

Keywords: neuroendocrine tumor, genetics ,

#658 Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing.

Introduction: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with mutations in established PCC and PGL susceptibility loci. A majority of unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signalling pathway. Mutations in RAS subtypes H, K and N are common in human cancers, however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL.

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author:

Authors: Crona J, Delgado Verdugo A, Stålberg P, Granberg D, Hellman P,

Keywords: H-RAS, pheochromocytoma,