Pancreatic Acinar Cystic Transformation: Familial Forms Do Exist.

ABSTRACT:Pancreatic acinar cystic transformation (ACT) is a recently described entity of the pancreatic cysts' spectrum. It is a nonneoplastic pancreatic lesion, mostly asymptomatic, and is considered a rare disease, with less than 100 reported cases. Its benign nature and the absence of reported cases of malignant transformation or invasive lesions were a plea for a conservative approach. As a consequence, little is known about the pathogenesis of this lesion. No familial history of ACT has been previously described. Here, we report a familial case of 2 siblings with typical ACT imaging lesions giving evidence for familial aggregation. No obvious environmental exposure was identified as a potential risk factor for ACT development. No physiological data exist to suggest a congenital nature of these lesions, but for the first patient, the calcifications seem to have appeared with time. Further research, with high throughput sequencing technologies, may elucidate genetic polymorphisms explaining potential ACT familial phenotype. In practice, careful family history collection must be performed to identify a possible familial form of ACT when this diagnosis is proposed.