Pancreatic neuroendocrine tumors (pNETs) in French VHL mutation carriers – A nationwide retrospective study with genotype-phenotype correlations

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Introduction: Von Hippel-Lindau disease (VHL) is a rare inheritable syndrome predisposing to pancreatic neuroendocrine tumors (pNETs). The natural history of VHL-related pNETs is ill-known.

Aim(s): Exon 3 VHL pathogenic variants (PV) were suspected to correlate with poorer prognosis.

Materials and methods: We reviewed the records of all VHL germline PV carriers included in the nationwide PREDIR database (1995-2022). We studied all patients with pNETs. We described disease characteristics and survival and assessed their correlation with the type of PV (exon 3 vs others).

Conference:

Presenting Author:

Authors: Muller M, Hammel P, Sauvanet A, Couvelard A, Vullierme M,

Keywords: hereditary neoplastic syndrome, von Hippel-Lindau disease, VHL gene, pancreatic neuroendocrine tumor,