Pancreatic Intraductal Papillary Mucinous Neoplasm in a Carrier of a Reported Pathogenic BRCA2 Variant: Diagnostic Considerations and Management Using European and International Guidelines
Year: 2026
Type: article
Study design: Case Report
Abstract: Pathogenic germline variants in BRCA2 are associated with increased susceptibility to pancreatic ductal adenocarcinoma and may prompt pancreatic surveillance in selected high-risk individuals. Whether BRCA2 status increases the prevalence or alters the biological behavior of intraductal papillary mucinous neoplasms (IPMNs) remains uncertain. We report a 71-year-old Latin American woman with a reported heterozygous pathogenic BRCA2 variant and a remote history of stage IA hormone receptor-positive, HER2-negative breast carcinoma. The original molecular genetics report was unavailable; therefore, the exact variant designation, testing platform, laboratory classification, and American College of Medical Genetics and Genomics (ACMG)/Association of Molecular Pathology (AMP) evidence could not be independently verified. In June 2025, during long-term oncologic follow-up, positron emission tomography-computed tomography incidentally identified a 21×21 mm pancreatic tail cyst. Magnetic resonance cholangiopancreatography (MRCP) in July 2025 demonstrated a 22×20 mm cyst communicating with the main pancreatic duct (MPD), which measured 5 mm. Endoscopic ultrasound (EUS) demonstrated a 20×23 mm septated cyst without mural nodules or a solid component. Serum carbohydrate antigen 19-9 (CA 19-9) was 21.4 U/mL. Cyst fluid glucose was 12 mg/dL, amylase 316 U/L, and carcinoembryonic antigen (CEA) 247 ng/mL. Cytologic examination and an adequate cell-block specimen obtained by EUS-guided fine-needle aspiration (EUS-FNA) demonstrated papillary mucinous epithelium with gastric-type features, favoring a low-grade IPMN. No immunohistochemical studies were performed, and the specimens were evaluated by a gastrointestinal pathologist. The case was reviewed by a multidisciplinary team in August 2025. The 5 mm MPD represented a relative indication for surgery under the 2018 European evidence-based guidelines and a worrisome feature under contemporary international criteria, but no absolute or high-risk indication for resection was identified. Surveillance was selected. Computed tomography (CT) in December 2025 showed a stable 22×20 mm cyst and a 5 mm MPD; serum CA 19-9 was 24.7 U/mL. In May 2026, the cyst measured 22×21 mm, and the MPD remained 5 mm. The patient remained clinically stable and asymptomatic without pancreatitis, obstructive jaundice, abdominal pain, weight loss, or other symptoms attributable to the lesion. This case illustrates the integration of lesion-specific morphology, ductal anatomy, pathology, longitudinal imaging, and hereditary-risk context without using reported BRCA2 status alone as an indication for pancreatic resection.
Source: Cureus
Language: English
Subfield: Oncology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7214367750