Pancreatic cystic lesions in hereditary syndromes: Diagnostic role of endoscopic ultrasound.

Pancreatic cystic lesions (PCLs) may occur in several hereditary syndromes, although their frequency, phenotype, and clinical implications differ considerably across entities. This review summarizes the spectrum of hereditary-associated PCLs, focusing on von Hippel-Lindau syndrome, autosomal dominant polycystic kidney disease, cystic fibrosis, multiple endocrine neoplasia type 1, and other hereditary pancreatic cancer predisposition syndromes. The lesions most commonly encountered are simple cysts, serous cystic neoplasms, and intraductal papillary mucinous neoplasms, whereas cystic pancreatic neuroendocrine tumors are less frequent. In some cases, pancreatic cystic lesions may represent the first or only manifestation of an underlying hereditary disorder. The endosonographic morphology of hereditary-associated PCLs is generally comparable to that seen in sporadic lesions, making clinical and genetic context essential for interpretation. EUS with fluid aspiration remains central to evaluation, while cyst-fluid next-generation sequencing may provide added value when imaging, cytology, and standard fluid analysis are inconclusive. Molecular testing may improve cyst classification, support risk stratification, and occasionally reveal lesion-specific alterations suggestive of a hereditary background. Although IPMNs appear to be more prevalent in hereditary pancreatic cancer syndromes and familial pancreatic cancer kindreds, their malignant potential relative to sporadic IPMNs remains uncertain. At present, surveillance should therefore follow syndrome-specific recommendations together with existing guideline-based management of pancreatic cysts, pending further studies to better define natural history and optimal follow-up strategies in hereditary settings.