{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["98(50)"],"submitter":["Gaujoux S"],"pubmed_abstract":["<h4>Rationale</h4>Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are preneoplastic lesions diagnosed with an increasing incidence. Recently, several groups have described, in up to 70% of IPMN, activating mutations of the G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS). GNAS-activating somatic, post-zygotic, mutations are also associated with McCune-Albright syndrome (MCAS) characterized by fibrous dysplasia, precocious puberty, and café-au-lait spots.<h4>Patient concerns</h4>We herein report a patient with McCune Albright Syndrome that presented with malignant IPMN and underwent pancreatic resection.<h4>Diagnoses and interventions</h4>Leucocyte and duodenum juice DNA analysis, endoscopically collected from secretin-stimulated pancreatic juice revealed the same (GNAS) activating mutation also found in the invasive pancreatic colloid adenocarcinoma arising from intestinal subtype IPMN.<h4>Outcomes</h4>Thirty months after surgery, the patient was alive with recurrence (bone only metastasis).<h4>Lessons</h4>In this observation, we show that MCAS should be view as a new genetic predisposition to IPMN associated pancreatic cancer, and consequently a targeted screening in this high-risk population might be proposed."],"journal":["Medicine"],"pagination":["e18102"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6922479"],"repository":["biostudies-literature"],"pubmed_title":["McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report."],"pmcid":["PMC6922479"],"pubmed_authors":["Silve C","Leroy K","Douset B","Mehsen-Cetre N","Coriat R","Gaujoux S","Prat F","Pasmant E","Rouquette A"],"additional_accession":[]},"is_claimable":false,"name":"McCune Albright syndrome is a genetic predisposition to intraductal papillary and mucinous neoplasms of the pancreas associated pancreatic cancer in relation with GNAS somatic mutation - a case report.","description":"<h4>Rationale</h4>Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are preneoplastic lesions diagnosed with an increasing incidence. Recently, several groups have described, in up to 70% of IPMN, activating mutations of the G-protein alpha stimulatory sub-unit (Gsα subunit) gene (GNAS). GNAS-activating somatic, post-zygotic, mutations are also associated with McCune-Albright syndrome (MCAS) characterized by fibrous dysplasia, precocious puberty, and café-au-lait spots.<h4>Patient concerns</h4>We herein report a patient with McCune Albright Syndrome that presented with malignant IPMN and underwent pancreatic resection.<h4>Diagnoses and interventions</h4>Leucocyte and duodenum juice DNA analysis, endoscopically collected from secretin-stimulated pancreatic juice revealed the same (GNAS) activating mutation also found in the invasive pancreatic colloid adenocarcinoma arising from intestinal subtype IPMN.<h4>Outcomes</h4>Thirty months after surgery, the patient was alive with recurrence (bone only metastasis).<h4>Lessons</h4>In this observation, we show that MCAS should be view as a new genetic predisposition to IPMN associated pancreatic cancer, and consequently a targeted screening in this high-risk population might be proposed.","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Dec","modification":"2025-04-04T22:29:41.911Z","creation":"2020-05-22T08:23:06Z"},"accession":"S-EPMC6922479","cross_references":{"pubmed":["31852070"],"doi":["10.1097/MD.0000000000018102"]}}