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Peer-reviewedCC BYCureus

Pancreatic Intraductal Papillary Mucinous Neoplasm in a Carrier of a Reported Pathogenic BRCA2 Variant: Diagnostic Considerations and Management Using European and International Guidelines.

  1. 1Gastrointestinal Endoscopy, Hospital Regional de Alta Especialidad Bicentenario de la Independencia, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Tultitlán, MEX.
  2. 2Pathology, Hospital Regional de Alta Especialidad Bicentenario de la Independencia, Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado (ISSSTE), Tultitlán, MEX.

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.

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BibTeX
@article{balderasortega2026pancreatic,
  title = {{Pancreatic Intraductal Papillary Mucinous Neoplasm in a Carrier of a Reported Pathogenic BRCA2 Variant: Diagnostic Considerations and Management Using European and International Guidelines.}},
  author = {Julio C Balderas-Ortega and Yoeli Escandon-Espinoza and Katia Lopez Garcia and Gabriela Jasso Guerrero},
  journal = {Cureus},
  year = {2026},
  month = sep,
  doi = {10.7759/cureus.116881},
  url = {https://europepmc.org/article/MED/42928716},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Pancreatic Intraductal Papillary Mucinous Neoplasm in a Carrier of a Reported Pathogenic BRCA2 Variant: Diagnostic Considerations and Management Using European and International Guidelines.
AU  - Julio C Balderas-Ortega
AU  - Yoeli Escandon-Espinoza
AU  - Katia Lopez Garcia
AU  - Gabriela Jasso Guerrero
PY  - 2026
DA  - 2026/09/24
JO  - Cureus
DO  - 10.7759/cureus.116881
UR  - https://europepmc.org/article/MED/42928716
AB  - 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.
SN  - 2168-8184
ER  -