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

Review of pancreatic cystic lesion spectrum (simple cysts, SCN, IPMN) in hereditary syndromes (VHL, ADPKD, cystic fibrosis, MEN1, hereditary pancreatic cancer syndromes) — diagnostic and prognostic role of EUS + cyst-fluid NGS

This review examines pancreatic cystic lesions (PCLs) in the context of hereditary syndromes, including VHL, ADPKD, cystic fibrosis, MEN1, and hereditary pancreatic cancer predisposition syndromes. The most common types are simple cysts, serous cystic neoplasms, and IPMNs. In some cases, a PCL may be the first manifestation of an underlying hereditary disorder. EUS with fluid aspiration remains central, and cyst-fluid NGS may add value when imaging is inconclusive.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This practical review is useful for physicians managing hereditary syndrome carriers who incidentally discover pancreatic lesions. The main message: clinical and genetic context is essential for interpretation, as EUS morphology resembles sporadic forms. Integration of cyst-fluid NGS to reveal a hereditary background is promising but still to be standardized in follow-up algorithms.

Clinical impact: 2/3 · Evidence strength: 2/3 · Novelty: 1/2 · Sample size: 0/1 · Journal quality: 0/1 → Total: 5/10