Identification of cystic lesions by secondary screening of familial pancreatic cancer (FPC) kindreds is not associated with the stratified risk of cancer
Open accessAbstract
OBJECTIVES: Intraductal papillary mucinous neoplasms (IPMNs) are associated with risk of pancreatic ductal adenocarcinoma (PDAC). It is unclear if an IPMN in individuals at high risk of PDAC should be considered as a positive screening result or as an incidental finding. Stratified familial pancreatic cancer (FPC) populations were used to determine if IPMN risk is linked to familial risk of PDAC. METHODS: This is a cohort study of 321 individuals from 258 kindreds suspected of being FPC and undergoing secondary screening for PDAC through the European Registry of Hereditary Pancreatitis and Familial Pancreatic Cancer (EUROPAC). Computerised tomography, endoscopic ultrasound of the pancreas and magnetic resonance imaging were used. The risk of being a carrier of a dominant mutation predisposing to pancreatic cancer was stratified into three even categories (low, medium and high) based on: Mendelian probability, the number of PDAC cases and the number of people at risk in a kindred. RESULTS: There was a median (interquartile range (IQR)) follow-up of 2 (0-5) years and a median (IQR) number of investigations per participant of 4 (2-6). One PDAC, two low-grade neuroendocrine tumours and 41 cystic lesions were identified, including 23 IPMN (22 branch-duct (BD)). The PDAC case occurred in the top 10% of risk, and the BD-IPMN cases were evenly distributed amongst risk categories: low (6/107), medium (10/107) and high (6/107) (P = 0.63). CONCLUSIONS: The risk of finding BD-IPMN was independent of genetic predisposition and so they should be managed according to guidelines for incidental finding of IPMN.
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Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications
Marafioti, M., Patruno, M., Musarra, M., Silvestris, N., Funes, J. A. P., Omero, F., Sapuppo, E., Cianci, V., Calabrò, M., Irrera, N., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27146404
- Authors
- Sheel, A. R. G., Harrison, S., Sarantitis, I., Nicholson, J. A., Hanna, T., Grocock, C., Raraty, M., Ramesh, J., Farooq, A., Costello, E., Jackson, R., Chapman, M., Smith, A., Carter, R., Mckay, C., Hamady, Z., Aithal, G. P., Mountford, R., Ghaneh, P., Hammel, P., Lerch, M. M., Halloran, C., Pereira, S. P., Greenhalf, W., & collaborators, O. B. O. E.
- Affiliations
- University of Liverpool (GB)
- Royal Liverpool University Hospital (GB)
- University College London (GB)
- Leeds Teaching Hospitals NHS Trust (GB)
- Glasgow Royal Infirmary (GB)
- University Hospital Southampton NHS Foundation Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Liverpool Women's Hospital (GB)
- Hôpital Beaujon (FR)
- Universitätsmedizin Greifswald (DE)
- Corresponding author
- Greenhalf, W.
- ORCID
- Venue
- American Journal of Gastroenterology
- Published
- 2019-01
- Volume
- 114
- Issue
- 1
- Pages
- 155-164
- ISSN
- 0002-9270 (ISSN-L)
- 1572-0241
- OpenAlex
- W2896760005
- Cited by
- 36
- References
- 48
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 7 · 2023: 7 · 2022: 5 · 2021: 2 · 2020: 3 · 2019: 2
- FWCI
- 0.65
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- The American Journal of Gastroenterology (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Repository@Nottingham (University of Nottingham) (submittedVersion, cc-by-nc-nd)
- ePrints Soton (University of Southampton) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Funders
- Pancreatic Cancer UK (RG2014_01_PERERIA, PCUK-2018-EDA Pereira, 2011 Grant)
- Cancer Research UK (11883, 26881, 16812, 17680, 15957, 16186)
- National Institute for Health and Care Research (PB-PG-0407-13363, PB-PG-0712-28114, 08/29/02)
- Medical Research Council (MR/N005953/1)
- Topics
- Health Sciences › Medicine › Oncology › Pancreatic and Hepatic Oncology Research
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Health Sciences › Medicine › Surgery › Pancreatitis Pathology and Treatment
- Keywords
- intraductal papillary mucinous neoplasm, branch duct IPMN, pancreatic cysts, familial pancreatic cancer, pancreatic ductal adenocarcinoma, secondary screening, genetic susceptibility, incidental finding, neuroendocrine tumors
- MeSH terms
- Adult, Aged, Aged, 80 and over, Carcinoma, Europe, Family, Female, Humans, Male, Middle Aged, Pancreatic Neoplasms, Pedigree, Registries, Risk Factors, Cohort Studies, Genetic Predisposition to Disease, Early Detection of Cancer, Young Adult
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