Pancreatic neuroendocrine tumor: case report of a patient with germline FANCD2 mutation and tumor analysis using single-cell RNA sequencing

Neuroendocrine neoplasms are a rare and heterogeneous group of neoplasms. Small sized (≤ 2 cm) pancreatic neuroendocrine tumors (pNETs) are of particular interest, as they are often associated with aggressive behavior, with no specific prognostic or progression markers. This article describes a clinical case characterized by a progressive growth of non-functional pNET requiring surgical treatment, in a patient with a germline FANCD2 mutation, previously not reported in pNETs. Primary pancreatic neuroendocrine tumor sample from one patient was analyzed using single-cell RNA-seq