{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T19:19:04Z","timestamp":1778786344018,"version":"3.51.4"},"reference-count":49,"publisher":"The Endocrine Society","issue":"11","funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH 1 Z01 DE000649"],"award-info":[{"award-number":["NIH 1 Z01 DE000649"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Context<\/jats:title><jats:p>McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, caf\u00e9-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein G\u03b1s. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. The clinical spectrum and prevalence of MAS-associated GI disease is not well established.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Cross-sectional study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>National Institutes of Health Clinical Center and The Johns Hopkins Hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Thirty of 54 subjects (56%) had radiographic GI abnormalities. Twenty-five (46%) of the screened subjects had IPMNs (mean age of 35.1 years). Fourteen of the 25 had IPMNs alone, and 11 had IPMNs and abnormal hepatobiliary imaging. The 30 patients with MAS-associated GI pathology had a higher prevalence of acute pancreatitis, diabetes mellitus, and skeletal disease burden of fibrous dysplasia than patients without GI disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A broad spectrum of GI pathology is associated with MAS. IPMNs are common and occur at a younger age than in the general population. Patients with MAS should be considered for screening with a focused GI history and baseline MRCP. Further determination of the natural history and malignant potential of IPMNs in MAS is needed.<\/jats:p><\/jats:sec>","DOI":"10.1210\/jc.2018-01022","type":"journal-article","created":{"date-parts":[[2018,8,15]],"date-time":"2018-08-15T18:03:45Z","timestamp":1534356225000},"page":"4293-4303","source":"Crossref","is-referenced-by-count":19,"title":["Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome"],"prefix":"10.1210","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4813-6356","authenticated-orcid":false,"given":"Cemre","family":"Robinson","sequence":"first","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland"},{"name":"Program in Developmental Endocrinology and Genetics, The Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland"},{"name":"Department of Pediatrics, Section of Endocrinology, Yale University School of Medicine, New Haven, Connecticut"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Estrada","sequence":"additional","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland"},{"name":"Division of Endocrinology and Diabetes, Children\u2019s National Health System, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atif","family":"Zaheer","sequence":"additional","affiliation":[{"name":"Russell H. 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Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph H","family":"Hruban","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland"},{"name":"Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura D","family":"Wood","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland"},{"name":"Department of Oncology, The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u00ebl","family":"No\u00eb","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A","family":"Montgomery","sequence":"additional","affiliation":[{"name":"Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lori C","family":"Guthrie","sequence":"additional","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne 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