Abdominal Imaging of Pancreatic Cysts and Cyst-Associated Pancreatic Cancer in BRCA1/2 Mutation Carriers: A Retrospective Cross-Sectional Study

Abstract

BACKGROUND: Direct-to-consumer BRCA testing will increase BRCA diagnoses and subsequent abdominal imaging. It is unclear whether BRCA carriers are at higher risk of developing pancreatic cysts (PCs) or cyst-associated pancreatic ductal adenocarcinoma (PDAC). We investigated the prevalence of PCs in BRCA-tested patients, and whether BRCA-carriers have higher rates of PDAC when PCs are found. STUDY DESIGN: This is a retrospective cross-sectional study of patients with BRCA testing and abdominal imaging between 1996 and 2018. Pancreatic cysts were identified on original imaging reports. Prevalence and risk characteristics of PCs, as well as incidence of PDAC, were compared between BRCAþ, BRCA-, and BRCA-untested patients. RESULTS:Pancreatic cysts were identified in 4,045 patients among 128,164 unique patients with abdominal imaging, including 33 patients with PCs in 1,113 BRCA-tested patients. There was no difference in PC prevalence between BRCAþ, BRCA-, and untested patients (3.6%, 2.6%, 3.2%, respectively; p ¼ 0.64). Pancreatic cysts were diagnosed in BRCAþ patients at a younger age (57.1 vs 65.3 years, p < 0.001); however, there was no difference in risk stratification compared with BRCA-or untested patients by consensus criteria. Across the population of imaged patients, patients with PCs had significantly higher rates of PDAC compared with those without PCs (18.2% vs 2.4%, p < 0.001). Incidence of cyst-associated PDAC was similar in BRCAþ and BRCA-patients (13.3% vs 22.2%, p ¼ 0.84). CONCLUSIONS: BRCAþ patients have similar rates of PCs, high-risk features in their cysts, and PDAC as BRCAand untested patients. BRCAþ patients likely do not require dedicated abdominal imaging to evaluate for PCs and should follow management guidelines similar to those as the untested general population if an incidental PC is identified.

Prevalence of a BRCA2 Pathogenic Variant in Hereditary-Breast-and-Ovarian-Cancer-Syndrome Families with Increased Risk of Pancreatic Cancer in a Restricted Italian Area

“…The lifetime risk of PDAC is about 1% for BRCA1 and 4.9% for BRCA2 PV/LPVs carriers [ 30 ], and studies by the Breast Cancer Linkage Consortium reported a 2.3-fold and 3.5-fold increased risk of PDAC in carriers of BRCA1- and BRCA2 -altered variants, respectively [ 14 ]. In addition, a few studies analyzed the prevalence and clinical features of pancreatic cystic lesions in a BRCA -tested population in order to establish the risk of pancreatic cysts and cyst-associated cancer, which could have important implications in the context of increasingly accessible genetic testing [ 31 , 32 , 33 ], but there were significant limitations. The use of next-generation-sequencing (NGS)-based technologies is becoming a new gold standard for determining molecular predictive biomarkers and reliable data on the detection of multiple pathogenic variants, allowing for the screening of thousands of affected individuals [ 34 ].…”