biostudies-literatureRobinson CIntramural NIH HHSNCI NIH HHSNational Institutes of Health4293-4303https://www.ebi.ac.uk/biostudies/studies/S-EPMC6194803biostudies-literatureUnknown103(11)<h4>Context</h4>McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. 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.<h4>Objective</h4>Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.<h4>Design</h4>Cross-sectional study.<h4>Setting</h4>National Institutes of Health Clinical Center and The Johns Hopkins Hospital.<h4>Methods</h4>Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).<h4>Results</h4>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.<h4>Conclusions</h4>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.The Journal of clinical endocrinology and metabolismClinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome.PMC6194803Z01 DE000649NIH 1 Z01 DE000649P50 CA062924R01 CA176828Goggins MGBoyce AMWolfgang CLMontgomery EAEstrada ALennon AMNoe MZaheer AHruban RHCollins MTWood LDRobinson CSingh VKGuthrie LCfalseClinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome.<h4>Context</h4>McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. 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.<h4>Objective</h4>Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.<h4>Design</h4>Cross-sectional study.<h4>Setting</h4>National Institutes of Health Clinical Center and The Johns Hopkins Hospital.<h4>Methods</h4>Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).<h4>Results</h4>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.<h4>Conclusions</h4>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.2018-01-01T00:00:00Z2018 Nov2024-11-15T19:34:00.438Z2019-11-08T08:03:55ZS-EPMC61948033012496810.1210/jc.2018-01022