{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T18:55:56Z","timestamp":1785783356240,"version":"3.56.0"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T00:00:00Z","timestamp":1337817600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>PTEN<\/jats:title><jats:p>hamartoma tumor syndrome (PHTS) is a group of syndromes caused by mutations in <jats:italic>PTEN<\/jats:italic>. Gorham\u2013Stout phenomenon (GSP) is a rare condition characterized by proliferation of vascular structures in bones, resulting in progressive osteolysis. Here we present a 1\u2010year\u2010old boy with PHTS and GSP. The lesion that later proved to be GSP was evident from the age of 4 months, and became symptomatic at the age of 1 year. Eventually, he developed a fatal chylothorax. Mutation analysis revealed a germline heterozygous mutation c.517 C&gt;T (p.Arg173Cys) in exon 6 of <jats:italic>PTEN<\/jats:italic>. Analysis of the lymphatic malformation (LM) tissue revealed no loss of heterozygosity (LOH) nor a second, somatic <jats:italic>PTEN<\/jats:italic> mutation of the remaining wild type allele. The germline p.Arg173Cys mutation was also present in the mother and the propositus' younger sister and brother. Further molecular work\u2010up showed a heterozygous variant c.2180C&gt;T (p.Ala727Val) <jats:italic>FLT4<\/jats:italic> in the LM tissue, which was also present in the germline of mother and two siblings. GSP has not been reported before in a patient with a <jats:italic>PTEN<\/jats:italic> mutation. Up to this date, this mutation is the only genetic defect possibly involved in the etiology of GSP which is plausible given the known function of <jats:italic>PTEN<\/jats:italic> in angiogenic signaling. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35406","type":"journal-article","created":{"date-parts":[[2012,5,24]],"date-time":"2012-05-24T18:46:06Z","timestamp":1337885166000},"page":"1719-1723","source":"Crossref","is-referenced-by-count":19,"title":["<i>PTEN<\/i> hamartoma tumor syndrome and Gorham\u2013Stout phenomenon"],"prefix":"10.1002","volume":"158A","author":[{"given":"Saskia M.J.","family":"Hopman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick R.","family":"Van Rijn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charis","family":"Eng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Bras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marielle","family":"Alders","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal M.","family":"van der Horst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes H.M.","family":"Merks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,24]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"NCCN Clinical Practice Guidelines in Oncology. 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