Abstract Library

#1645 A Role of TETs and 5-Hydroxymethylcytosine in SI-NETs

Introduction: Small intestinal neuroendocrine tumors (SI-NETs) are rare and slow growing neoplasms. Identification of patients with worse outcome and of novel potential targets for therapy is important goals. The epigenetic mark 5-hydroxymethylcytosine (5-hmC) is severely reduced in various cancers and was recently found by us to discriminate between parathyroid adenoma and carcinoma. A growth regulatory role of TET1 was also found.

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author:

Authors: Barazeghi E, Prabhawa S, Hellman P, Norlén O, Stålberg P,

Keywords: SI-NET, 5-hydroxymethylcytosine, TETs,

#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 ,

#820 ACTG2 Inhibits Growth and Is Epigenetically Repressed in Small Intestinal Neuroendocrine Tumors

Introduction: Small intestinal neuroendocrine tumors (SI-NETs) originate from the enterochromaffin cells in the ileum. Actin gamma smooth muscle 2 (ACTG2) is downregulated in lymph node metastases from SI-NETs. ACTG2 and microRNA-145 (miR-145) are aberrantly expressed in other cancers and ACTG2 can be induced by miRNA-145.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Edfeldt K, Hellman P, Westin G, Stålberg P,

Keywords: SI-NET, ACTG2, miR-145, epigenetics,

#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,