Pancreatic neuroendocrine neoplasms (pNENs) are the second most common pancreatic malignancy. While most cases are sporadic, a small proportion is associated with genetic syndromes, such as Multiple Endocrine Neoplasia (MEN), Von Hippel-Lindau Syndrome (VHL), Neurofibromatosis Type 1 (NF1), and Tuberous Sclerosis Complex (TSC). This review aims to use pNENs as a clue to reveal the full spectrum of disease, providing a comprehensive understanding of diagnosis. It aids in promptly identifying abnormalities in other organs, recognizing familial genetic mutations, and achieving personalized treatment.
Keywords: Genetic syndromes; Multiple neuroendocrine neoplasia type 1; Neurofibromatosis type 1; Pancreatic neuroendocrine neoplasms; Tuberous sclerosis complex; Von Hippel-Lindau syndrome.
© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.