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Pancreatic Acinar Cystic Transformation: Familial Forms Do Exist
Lina Aguilera Munoz, Carina Boros1, Fanny Bonvalet2
1Department of Pancreatology and Digestive Oncology, Beaujon University Hospital (APHP), Université Paris Cité, Clichy.
Pancreas
|September 16, 2023
Summary
Pancreatic acinar cystic transformation (ACT), a rare pancreatic cyst, may have a familial component. This study reports two siblings with ACT, suggesting genetic factors warrant further investigation for this benign lesion.
Area of Science:
- Gastroenterology
- Oncology
- Genetics
Background:
- Pancreatic acinar cystic transformation (ACT) is a rare, benign pancreatic cyst.
- Few cases (<100) have been reported, with limited understanding of its pathogenesis.
- ACT is typically asymptomatic and managed conservatively due to its non-neoplastic nature.
Observation:
- This study presents a familial case of ACT in two siblings.
- No clear environmental risk factors were identified for ACT development.
- Calcifications in one patient appeared over time, suggesting a dynamic process.
Findings:
- The familial aggregation of ACT in siblings suggests a potential genetic predisposition.
- This case provides the first evidence of a possible familial form of ACT.
- The findings challenge the assumption of purely sporadic occurrence for ACT.
Implications:
- Further research using high-throughput sequencing may identify genetic polymorphisms linked to ACT.
- Clinicians should consider collecting detailed family histories when diagnosing ACT.
- Identifying familial ACT could refine diagnostic and management strategies for this rare pancreatic lesion.
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