Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis.

A 67 year old man with a clinical diagnosis of attenuated familial adenomatous polyposis (AFAP) and a past history of synchronous colon cancers in the transverse colon was also found to have an intraductal papillary mucinous neoplasm (IPMN) of the pancreas. In addition, several foci of heterotopic gastric oxyntic mucosa were noted in the duodenum, interspersed with flat and polypoid adenomas. The duodenal adenomas showed low grade dysplasia, loss of adenomatous polyposis coli (APC) protein expression, but retention of beta catenin staining, localised to the nucleus and cytoplasm. The IPMN in the pancreas showed an identical immunohistochemical profile to the duodenal adenomas. The heterotopic gastric foci in the duodenum were negative for the APC protein, and beta catenin staining was membranous in location. Although the patient did not show germline truncating APC mutations or mutations in the MYH gene, the past history, clinical features, and immunohistochemical profile of the various lesions suggest strongly that the IPMN is part of the spectrum of lesions encountered in AFAP. Whether the heterotopic oxyntic gastric mucosa in the duodenum is also related is unclear, but it may represent a forme fruste of fundic gland polyps.