{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:00:58Z","timestamp":1774645258229,"version":"3.50.1"},"reference-count":20,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,1,26]]},"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>McCune Albright syndrome (MAS), a disorder caused by somatic activating mutations in the <jats:italic>GNAS<\/jats:italic> gene, usually presents with cutaneous, skeletal, and endocrine manifestations. While focal lesions involving multiple tissues have been identified in MAS, almost nothing is known about gastrointestinal lesions in this disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Two MAS patients with perioral freckling, resembling Peutz\u2013Jeghers syndrome (PJS), and two MAS patients without similar pigmentation underwent gastrointestinal endoscopy to establish if they had coexisting hamartomatous polyposis. Three of 4 subjects had documented <jats:italic>GNAS<\/jats:italic> mutations in peripheral blood. Genetic testing for <jats:italic>STK11<\/jats:italic> and <jats:italic>PRKAR1A<\/jats:italic> genes was performed to exclude presence of coexistent PJS and Carney complex. Genetic testing of biopsy material was also performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Hamartomatous gastrointestinal polyps with histological features similar to those in PJS were observed in all 4 subjects, only in the stomach and\/or upper duodenum. Activating <jats:italic>GNAS<\/jats:italic> mutations were found in the polyps or adjacent mucosa in 3 of 4 subjects. One patient each had mutation only in the blood or tissue, while 2 patients had both. No subject harboured any detectable <jats:italic>PRKARIA<\/jats:italic> or <jats:italic>STK11<\/jats:italic> mutation as determined by direct DNA sequencing and copy number variation analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These findings confirm that gastrointestinal polyps are a common manifestation of MAS, indicate an overlap between MAS and PJS, and point towards a putative interaction between the <jats:italic>GNAS<\/jats:italic> and <jats:italic>STK11<\/jats:italic> genes in the pathogenesis of these two disorders. The findings suggest a need for routine gastrointestinal endoscopy in patients with MAS, to establish the true incidence of polyps in these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.086330","type":"journal-article","created":{"date-parts":[[2011,3,1]],"date-time":"2011-03-01T16:13:56Z","timestamp":1298996036000},"page":"458-461","source":"Crossref","is-referenced-by-count":29,"title":["Gastrointestinal polyps in McCune Albright syndrome"],"prefix":"10.1136","volume":"48","author":[{"given":"Margaret","family":"Zacharin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurag","family":"Bajpai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung Wo","family":"Chow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Catto-Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constantine","family":"Stratakis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle W","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodney","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2011,2,28]]},"reference":[{"key":"2025101715090632000_48.7.458.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112123252403"},{"key":"2025101715090632000_48.7.458.2","unstructured":"Zacharin M . 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