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Pancreatic intraductal papillary mucinous neoplasm in a patient with Lynch syndrome.
- Source :
-
World journal of gastroenterology [World J Gastroenterol] 2015 Mar 07; Vol. 21 (9), pp. 2820-5. - Publication Year :
- 2015
-
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.
- Subjects :
- Adenocarcinoma, Mucinous chemistry
Adenocarcinoma, Mucinous pathology
Adenocarcinoma, Mucinous surgery
Adenocarcinoma, Papillary chemistry
Adenocarcinoma, Papillary pathology
Adenocarcinoma, Papillary surgery
Biomarkers, Tumor analysis
Biopsy
Carcinoma, Pancreatic Ductal chemistry
Carcinoma, Pancreatic Ductal pathology
Carcinoma, Pancreatic Ductal surgery
Cholangiopancreatography, Magnetic Resonance
Colorectal Neoplasms, Hereditary Nonpolyposis pathology
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Microsatellite Instability
Middle Aged
Pancreatectomy
Pancreatic Neoplasms chemistry
Pancreatic Neoplasms pathology
Pancreatic Neoplasms surgery
Phenotype
Tomography, X-Ray Computed
Adenocarcinoma, Mucinous genetics
Adenocarcinoma, Papillary genetics
Biomarkers, Tumor genetics
Carcinoma, Pancreatic Ductal genetics
Colorectal Neoplasms, Hereditary Nonpolyposis genetics
MutS Homolog 2 Protein genetics
Mutation
Pancreatic Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 2219-2840
- Volume :
- 21
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- World journal of gastroenterology
- Publication Type :
- Academic Journal
- Accession number :
- 25759555
- Full Text :
- https://doi.org/10.3748/wjg.v21.i9.2820