Abstract Library

#1042 The Challenge of Differential Diagnosis of Solid Pancreatic Lesions in Von Hippel-Lindau. Case Report

Introduction: Von Hippel-Lindau (VHL) is an hereditary syndrome, characterized by a predisposition to develop benign and malignant tumors. Pancreatic involvement is present in 35-70% of cases and include cystic (simple cyst, serous cystoadenoma, mucinous tumor or IPMN) and solid lesions (neuroendocrine neoplasm (NEN), metastatic mass or pancreatic adenocarcinoma). Finally, a solid-type serous cystoadenoma (SSCA) has been reported. Differential diagnosis of these lesions may be difficult.

Conference: 12th Annual ENETSConcerence (2015)

Presenting Author: Zilli A

Authors: Zilli A, Cavalcoli F, Maddalena P, Conte D, Massironi S,

Keywords: solid pancreatic lesions, VHL,

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

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.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Dibra H, Connor T, Ashcroft M, Maxwell P, Thirlwell C,

Keywords: neuroendocrine, von Hippel-Lindau (VHL), hypoxia, epigenetics,

#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 ENETSConcerence (2014)

Presenting Author: de Mestier L

Authors: De Mestier L, Gaujoux S, Cros J, Hentic O, Vullierme M,

Keywords: pancreas, neuroendocrine tumors, von Hippel-Lindau disease, natural history, prognosis,

#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 ENETSConcerence (2010)

Presenting Author: Ahmed D

Authors: Ahmed D, Amin D, Al Faraj D, Al Qahtani D,

Keywords: paraganglioma, succinate dehydrogenase B mutation, abdominal tumor, malignant/metastatic paraganglioma, serum urinary, catecholamines,