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Virchows Arch. 2017 Apr;470(4):391-400. doi: 10.1007/s00428-017-2086-2. Epub 2017 Feb 10.

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas.

Author information

1
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ldwood@jhmi.edu.
2
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ldwood@jhmi.edu.
3
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
4
Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
5
AmeriPath Indiana, Indianapolis, IN, USA.
6
Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
7
Department of Radiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
8
Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.
9
Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.
10
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
11
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

Abstract

McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations. Somatic activating GNAS mutations also commonly occur in several gastrointestinal and pancreatic neoplasms, but the spectrum of abnormalities in these organs in patients with MAS has yet to be systematically described. We report comprehensive characterization of the upper gastrointestinal tract in seven patients with MAS and identify several different types of polyps, including gastric heterotopia/metaplasia (7/7), gastric hyperplastic polyps (5/7), fundic gland polyps (2/7), and a hamartomatous polyp (1/7). In addition, one patient had an unusual adenomatous lesion at the gastroesophageal junction with high-grade dysplasia. In the pancreas, all patients had endoscopic ultrasound findings suggestive of intraductal papillary mucinous neoplasm (IPMN), but only two patients met the criteria for surgical intervention. Both of these patients had IPMNs at resection, one with low-grade dysplasia and one with high-grade dysplasia. GNAS mutations were identified in the majority of lesions analyzed, including both IPMNs and the adenomatous lesion from the gastroesophageal junction. These studies suggest that there is a broad spectrum of abnormalities in the gastrointestinal tract and pancreas in patients with MAS and that patients with MAS should be evaluated for gastrointestinal pathology, some of which may warrant clinical intervention due to advanced dysplasia.

KEYWORDS:

GNAS; Gastric heterotopia; Intraductal papillary mucinous neoplasm; McCune-Albright syndrome

PMID:
28188442
PMCID:
PMC5376511
DOI:
10.1007/s00428-017-2086-2
[Indexed for MEDLINE]
Free PMC Article

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