Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome

Cemre Robinson, Andrea Estrada, Atif Zaheer, Vikesh Singh, Christopher Wolfgang, Michael S Goggins, Ralph H Hruban, Laura Delong Wood, Michaël Noë, Elizabeth A Montgomery, Lori C. Guthrie, Anne Marie O'Broin-Lennon, Alison M. Boyce, Michael T. Collins

Research output: Contribution to journalArticle

Abstract

Context: 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.

Objective: Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.

Design: Cross-sectional study.

Setting: National Institutes of Health Clinical Center and The Johns Hopkins Hospital.

Methods: Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).

Results: 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.

Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)4293-4303
Number of pages11
JournalThe Journal of clinical endocrinology and metabolism
Volume103
Issue number11
DOIs
StatePublished - Nov 1 2018

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Polyostotic Fibrous Dysplasia
Pathology
Magnetic resonance
Medical problems
Magnetic Resonance Cholangiopancreatography
Tumors
Neoplasms
Screening
Bone
Gastrointestinal Diseases
Health
Imaging techniques
Fibrous Dysplasia of Bone
Mutation
Proteins
Gastrointestinal Neoplasms
National Institutes of Health (U.S.)
Natural History
Pancreatitis
Diabetes Mellitus

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. / Robinson, Cemre; Estrada, Andrea; Zaheer, Atif; Singh, Vikesh; Wolfgang, Christopher; Goggins, Michael S; Hruban, Ralph H; Wood, Laura Delong; Noë, Michaël; Montgomery, Elizabeth A; Guthrie, Lori C.; O'Broin-Lennon, Anne Marie; Boyce, Alison M.; Collins, Michael T.

In: The Journal of clinical endocrinology and metabolism, Vol. 103, No. 11, 01.11.2018, p. 4293-4303.

Research output: Contribution to journalArticle

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abstract = "Context: McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, caf{\'e}-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.Objective: Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.Design: Cross-sectional study.Setting: National Institutes of Health Clinical Center and The Johns Hopkins Hospital.Methods: Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).Results: 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.Conclusions: 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.",
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T1 - Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome

AU - Robinson, Cemre

AU - Estrada, Andrea

AU - Zaheer, Atif

AU - Singh, Vikesh

AU - Wolfgang, Christopher

AU - Goggins, Michael S

AU - Hruban, Ralph H

AU - Wood, Laura Delong

AU - Noë, Michaël

AU - Montgomery, Elizabeth A

AU - Guthrie, Lori C.

AU - O'Broin-Lennon, Anne Marie

AU - Boyce, Alison M.

AU - Collins, Michael T.

PY - 2018/11/1

Y1 - 2018/11/1

N2 - Context: 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.Objective: Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.Design: Cross-sectional study.Setting: National Institutes of Health Clinical Center and The Johns Hopkins Hospital.Methods: Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).Results: 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.Conclusions: 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.

AB - Context: 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.Objective: Define the spectrum and prevalence of MAS-associated GI pathology in a large cohort of patients with MAS.Design: Cross-sectional study.Setting: National Institutes of Health Clinical Center and The Johns Hopkins Hospital.Methods: Fifty-four consecutive subjects with MAS (28 males; age range, 7 to 67 years) were screened with magnetic resonance cholangiopancreatography (MRCP).Results: 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.Conclusions: 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.

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DO - 10.1210/jc.2018-01022

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