Incidence and Prevalence of Intraductal Papillary Mucinous Neoplasms in Individuals With BRCA1 and BRCA2 Pathogenic Variant

• Published in: Journal of clinical gastroenterology Vol. 57; no. 3; pp. 317 - 323
• Main Authors: Shah, Ishani, Silva-Santisteban, Andy, Germansky, Katharine A., Wadhwa, Vaibhav, Tung, Nadine, Huang, Dora C., Kandasamy, Cinthana, Mlabasati, Jack, Bilal, Mohammad, Sawhney, Mandeep S.
• Format: Journal Article
• Language: English
• Published: United States Lippincott Williams & Wilkins 01-03-2023
• Subjects: BRCA1 Protein - genetics; BRCA2 Protein - genetics; Carcinoma, Pancreatic Ductal - epidemiology; Carcinoma, Pancreatic Ductal - genetics; Carcinoma, Pancreatic Ductal - pathology; Cysts - pathology; Female; Humans; Incidence; Male; Middle Aged; Neoplasms, Cystic, Mucinous, and Serous - pathology; Pancreatic Ducts - pathology; Pancreatic Intraductal Neoplasms - pathology; Pancreatic Neoplasms; Pancreatic Neoplasms - epidemiology; Pancreatic Neoplasms - genetics; Pancreatic Neoplasms - pathology; Prevalence; Retrospective Studies
• ISSN: 1539-2031; 1539-2031
• DOI: 10.1097/MCG.0000000000001683

The natural history of branch-duct intraductal papillary neoplasm (BD-IPMN) in BRCA1/2 patients is unknown. Our goal was to estimate the incidence and prevalence of BD-IPMN and other pancreatic lesions in BRCA1/2 patients and compare it to that for average-risk individuals.
We identified a cohort of BRCA1/2 patients followed at our institution between 1995 and 2020. Medical records and imaging results were reviewed to determine prevalence of pancreatic lesions. We then identified those who had undergone follow-up imaging and determined the incidence of new pancreatic lesions. We categorized pancreatic lesions as low, intermediate, or high-risk based on their malignant potential.
During the study period, 359 eligible BRCA1/2 patients were identified. Average patient age was 56.8 years, 88.3% were women, and 51.5% had BRCA1 . The prevalence of low-risk pancreatic lesions was 14.4%, intermediate-risk 13.9%, and high-risk 3.3%. The prevalence of BD-IPMN was 13.6% with mean cyst size 7.7 mm (range: 2 to 34 mm). The prevalence of pancreatic cancer was 3.1%. Subsequent imaging was performed in 169 patents with mean follow-up interval of 5.3 years (range: 0 to 19.7 y). The incidence of BD-IPMN was 20.1%, with median cyst size 5.5 mm (range: 2 to 30 mm). The incidence of pancreatic cancer was 2.9%. BRCA2 patients were almost 4-times more likely to develop pancreatic cancer than BRCA1 patients, however, there was no difference in incidence or prevalence of BD-IPMN.
Incidence and prevalence of BD-IPMNs in BRCA1/2 patients was similar to that reported for average-risk individuals. BRCA2 patients were more likely than BRCA1 patients to develop pancreatic cancer but had similar rates of BD-IPMN.