c.163_164insG
Genetic and clinical data from 63 patients with hereditary Pancreatic neuroendocrine tumors (GpNET) and 145 with sporadic PNET (SpNET) were collected from two Polish endocrine departments from January 2004 to February 2020. Genomic DNA was extracted from peripheral blood leukocytes and the VHL and MEN1 genes were analyzed. The VHL gene was analyzed by Sanger sequencing and targeted next-generation sequencing (NGS), while the MEN1 gene was analyzed by by High-Resolution Melting, Sanger sequencing, Multiplex-ligation dependent probe amplification (MLPA), and targeted NGS. Only patients with confirmed germline mutations were included in the the GpNET cohort. Out of 53 patients with VHL, only five were diagnosed with GpNET. Patient 2 had this hereditary PNET with the confirmed germline mutation: E55fs (c.163dupG). Comparison of the two cohorts revealed that patients with GpNET are diagnosed earlier, have longer overall survival, less frequent metastases, and their tumors are smaller and often multifocal compared to the SpNET group.