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VHL Genotype Is Associated with Pancreatic Neuroendocrine Tumors (PNETs) Phenotype in Patients with Von Hippel-Lindau Disease (VHLD)


Introduction: 8-20% of patients with VHLD develop PNETs. However, there are no markers for PNETs progression in VHLD patients. The type of mutation in VHL gene is associated with clinical phenotype of VHLD.

Aim(s): To determine whether VHL mutation characteristics are associated with PNETs phenotype.

Materials and methods: A prospective study of patients with VHLD and PNETs with follow-up imaging. VHL mutations were characterized using Sanger sequencing of germline DNA. Disease progression [DP] was defined as growth ≥5mm & ≥20%.

Conference: 14th Annual ENETSConcerence (2017)

Presenting Author: Tirosh A

Authors: Tirosh A, Shell J, Keutgen X, Sadowski S, Green P,

Keywords: VHL, mutation, prognosis,

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