Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome

Robinson, Cemre; Estrada, Andrea; Zaheer, Atif; Singh, Vikesh K.; Wolfgang, Christopher L.; Goggins, Michael; Hruban, Ralph H.; Wood, Laura D.; Noë, Michaël; Montgomery, Elizabeth A.; Guthrie, Lori C.; Lennon, Anne Marie; Boyce, Alison M; Collins, Michael T.

doi:10.1210/jc.2018-01022

Cited by 16 publications

(14 citation statements)

References 48 publications

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“…This is the first report on long-term surveillance on both these conditions. Upper GI polyps of different histological types were found in 43% of the screened patients from this cohort, compared with 30% of GI polyps in MAS patients with known GI abnormalities reported elsewhere [10]; this could be due to the fact that nearly all our patients older than 13 years were screened, unlike the cohort in Wood et al [5] in which only selected patients underwent endoscopy. Similar to our cohort, gastric heterotopia and duodenal metaplasia were the more frequent histopathologies in their report.…”

Section: Discussioncontrasting

confidence: 52%

McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years

Grob

Zacharin

2020

Horm Res Paediatr

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Background and Objective: Gastrointestinal (GI) polyps with unknown malignant potential and a platelet storage pool deficiency that increases the risk of severe intraoperative and other types of bleeding have been identified in Mc-Cune-Albright syndrome (MAS). The natural course of these disorders has not been well characterized. The aim of this study was to report the follow-up of GI polyps and platelet dysfunction (PD) in a cohort of 28 patients with MAS. Methods: Twenty-eight patients with MAS (15 females) were included. Endoscopic screening for GI polyps was undertaken in 14 subjects and 19 were tested for PD. Results: Six subjects (5 males) were diagnosed with GI polyps at a median age of 23 (range 15-43) years, and were monitored for a median period of 8 (range 4.5-11.5) years. At endoscopic follow-up, the 4 patients with hamartomatous polyps at first endoscopy had either normal findings (n = 2), or duodenal gastric metaplasia (n = 2). Two patients with caecal polyps were identified. Of 8 subjects with a platelet storage pool deficien-cy, 5 required transfusions during surgery, and subsequent platelet cover in 2 markedly reduced intraoperative blood loss. Conclusions: New polyps with uncertain malignant potential are diagnosed after long term follow-up in MAS. Platelet cover reduces the need for red blood cell transfusion during orthopaedic surgery and may be useful to reduce non-operative bleeding events. We recommend regular upper and lower endoscopy and screening for PD in all MAS patients.

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Section: Discussioncontrasting

confidence: 52%

McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years

Grob

Zacharin

2020

Horm Res Paediatr

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“…MAS is associated with FD, café -aulait macules, and endocrinopathies. Notably, several studies (legend continued on next page) report pancreatic cysts in MAS patients accompanied by an increased PDAC risk (Robinson et al, 2018;Wood et al, 2017). To derive an in vitro model to explore disease pathogenesis driven by GNAS mutations, a genetically mosaic culture of MAS-patient bone marrow stromal cells was reprogrammed to generate clonal isogenic iPSC lines with either heterozygous p.R201C or wild-type (WT) GNAS genotype (Figures 6A, 6B, and S6A).…”

Section: Mas-derived and Gnas R201h -Overexpressing Pdlos Form Large Cystsmentioning

confidence: 99%

Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells

et al. 2021

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“…Activating GNAS mutations are known drivers for the development of intraductal papillary mucinous neoplasms (IPMNs) [62]. These pancreatic cysts have been reported in up to 40% of patients with MAS and have rarely been associated with obstructive pancreatitis and diabetes [58, 60, 63]. Gastrointestinal evaluation, including pancreatic imaging, should therefore be considered in all symptomatic patients [2, 34, 63].…”

Section: Other Manifestationsmentioning

confidence: 99%

“…These pancreatic cysts have been reported in up to 40% of patients with MAS and have rarely been associated with obstructive pancreatitis and diabetes [58, 60, 63]. Gastrointestinal evaluation, including pancreatic imaging, should therefore be considered in all symptomatic patients [2, 34, 63]. Although IPMNs are considered a potentially premalignant lesion in the general population, the risk of pancreatic adenocarcinoma in patients with MAS appears to be low, with only one reported case [64].…”

Section: Other Manifestationsmentioning

confidence: 99%

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

et al. 2019

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McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gα s activation and ligand-independent signaling of the Gα s-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the GNAS mutation is expressed, as well as the pathophysiologic effects of Gα s activation within these tissues. Patients present clinically with a variable combination of fibrous dysplasia of bone (FD), café-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, Gα s leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinical features, and includes a detailed discussion of the recommended approach to diagnosis and management.

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Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome

Cited by 16 publications

References 48 publications

McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years

McCune Albright Syndrome: Gastrointestinal Polyps and Platelet Dysfunction over 12 Years

Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

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