biostudies-literatureUnknown98(50)Gaujoux S<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.Medicinee18102https://www.ebi.ac.uk/biostudies/studies/S-EPMC6922479biostudies-literatureMcCune 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.PMC6922479Silve CLeroy KDouset BMehsen-Cetre NCoriat RGaujoux SPrat FPasmant ERouquette AfalseMcCune 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.<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.2019-01-01T00:00:00Z2019 Dec2025-04-04T22:29:41.911Z2020-05-22T08:23:06ZS-EPMC69224793185207010.1097/MD.0000000000018102