title: Pancreatic intraductal papillary mucinous neoplasm in a patient with Lynch syndrome.
abstract: Intraductal papillary mucinous neoplasm (IPMN) is a mucin-producing epithelial neoplasm that carries a risk of progression to invasive pancreatic ductal adenocarcinoma. Lynch syndrome is an autosomal dominant condition caused by germline mutations in mismatch repair genes such as MSH2 that lead to microsatellite instability and increased risk of tumor formation. Although families with Lynch syndrome have an increased risk of pancreatic cancer, a clear connection between Lynch syndrome and IPMN has not been drawn. We present a report of a 58 year-old Caucasian woman with multiple cancers and a germline mutation of MSH2 consistent with Lynch syndrome. A screening abdominal computed tomography scan revealed a dilated main pancreatic duct and cystic ductular structure in the uncinate process that were consistent with IPMN of the main pancreatic duct on excision. Immunohistochemistry and polymerase chain reaction of the patient's pancreas specimen did not reveal microsatellite instability or mismatch repair gene loss of expression or function. Our findings may be explained by the fact that loss of mismatch repair function and microsatellite instability is a late event in neoplastic transformation. Given the relative rarity of main duct IPMN, its appearance in the setting of somatic MSH2 mutation suggests that IPMN may fit into the constellation of Lynch syndrome related malignancies.
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Meghan R
authors.initials: MR
authors.lastname: Flanagan
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Arjun
authors.initials: A
authors.lastname: Jayaraj
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Wei
authors.initials: W
authors.lastname: Xiong
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Yeh
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Wendy H
authors.initials: WH
authors.lastname: Raskind
authors.affiliation: Meghan R Flanagan, Arjun Jayaraj, Venu G Pillarisetty, Department of Surgery, University of Washington Medical Center, University of Washington, Seattle, WA 98195, United States.
authors.forename: Venu G
authors.initials: VG
authors.lastname: Pillarisetty
mesh_terms: D002288:Adenocarcinoma, Mucinous / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000231:Adenocarcinoma, Papillary / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D021441:Carcinoma, Pancreatic Ductal / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D049448:Cholangiopancreatography, Magnetic Resonance; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D053842:Microsatellite Instability; D008875:Middle Aged; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation; D010180:Pancreatectomy; D010190:Pancreatic Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D010641:Phenotype; D014057:Tomography, X-Ray Computed
chemical_list: D014408:Biomarkers, Tumor; C497172:MSH2 protein, human; D051718:MutS Homolog 2 Protein
keywords: Hereditary nonpolyposis colorectal cancer; Intraductal papillary mucinous neoplasm; Lynch syndrome; MSH2; Microsatellite instability; Pancreatic cancer