SUN-324 Should We Screen for Pancreatic Cancer in Patient with Mccune Albright Syndrome?

Abstract

BACKGROUND: McCune-Albright syndrome (MAS) is a rare disorder defined by the classical association of polycystic fibrous dysplasia, precocious puberty and café au lait spots. MAS is also associated with an increased risk of various endocrine and non-endocrine neoplasms, such as thyroid adenoma, GH-secreting pituitary adenomas, adrenal Cushing’s and hepatobiliary and pancreatic tumors. MAS is caused by an autosomal dominant activating mutation of the G-protein alpha subunit gene (GNAS). CASE: 59-year-old male with McCune-Albright syndrome with multiple manifestations including polyostotic fibrous dysplasia, thyroid involvement, history of Leydig cell tumor, and cafe-au-lait spots presented with pancreatitis. The patient's history was significant for recurrent episodes of pancreatitis. The first one occurred in 2000.He recalls undergoing upper endoscopy which demonstrated pancreatic cysts. The patient denies any history of alcohol consumption or cholelithiasis. During the admission, liver function test ,lipase and amylase were normal. MRI and MRCP abdomen were performed and revealed dilatation of the extrahepatic common bile duct and pancreatic duct, with replacement of pancreatic parenchyma by pancreatic cyst. These findings are concerning for intraductal papillary mucinous neoplasm. Upper endoscopy with ultrasound of the pancreas was performed and multiple cysts were seen and biopsied. Pathology revealed IPMN. Patient underwent resection of the pancreatic mass. The patient was monitored yearly with pancreatic imaging. DISCUSSION: Somatic activating GNAS mutations have been reported in various hepatobiliary and pancreatic neoplasm such as hepatocellular adenoma, hepatocellular carcinoma and pancreatic IPMN. cAMP pathway is involved in the pathophysiology of this neoplasm. The true incidence of IPMN is not known but has been estimated to be only 25 per 100 000. IPMN have been described in patient with Carney complex due to inactivating mutations of PKAR1A, one of the main regulators of the cAMP signaling pathway. Idiopathic pancreatitis has been also described in patients with MAS and could possibly be explained by IPMN, since mild pancreatitis is a classic presentation of these neoplasms. In this particular case, the pancreatic cyst was found because he had multiple episodes of pancreatitis and imaging was performed. Sebastien G et al published a small observational study were they describe the new association between MAS and pancreatic neoplasm (IPMN) , liver adenomas and choledochal cyst. That study strongly suggested that cAMP pathway is involved in IPMN tumorigenesis. Given the long-term malignancy potential of IPMN, all MAS patients might be offered routine screening by MRI. If no lesion is found, surveillance MRI can be performed every 5 years. Our patient underwent surgical resection of the cysts and surveillance imaging will be performed every year.