{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:59:56Z","timestamp":1792097996687,"version":"4.4.0"},"reference-count":33,"publisher":"BMJ","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,9]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Mutations in the <jats:italic>PTEN<\/jats:italic> gene cause two disorders that predispose to cancer, Bannayan\u2013Riley\u2013Ruvalcaba and Cowden syndromes. Some patients with a <jats:italic>PTEN<\/jats:italic> mutation have only macrocephaly and autism, but they may still be at risk for neoplasms. Vascular anomalies occur in patients with a <jats:italic>PTEN<\/jats:italic> mutation, but they have not been systematically studied or precisely defined.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Method:<\/jats:bold> We analysed the clinical and radiological features of the vascular anomalies in 26 patients with <jats:italic>PTEN<\/jats:italic> mutations who were either seen or had their medical records reviewed at Children\u2019s Hospital Boston.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> All 23 patients who had their head circumference measured were macrocephalic, and all 13 male patients who were fully examined had penile freckling. Vascular anomalies were found in 14\/26 (54%) of patients: 8\/14 (57%) had multiple lesions and 11\/13 (85%) who had cross-sectional imaging had intramuscular vascular lesions. Radiographic studies showed that 12\/14 (86%) were fast-flow vascular anomalies, and angiography typically showed focal segmental dilatation of draining veins. Excessive ectopic fat in the vascular anomalies was present in 11\/12 (92%) of patients on CT or MRI. Intracranial developmental venous anomalies (DVAs) were found in 8\/9 (89%) of patients who had brain MRI with contrast.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> Vascular anomalies in patients with a <jats:italic>PTEN<\/jats:italic> mutation are typically multifocal intramuscular combinations of fast-flow channels and ectopic fat. Cerebral DVAs are very common. <jats:italic>PTEN<\/jats:italic> mutational analysis should be considered for all macrocephalic patients with fast-flow vascular anomalies or multiple intracranial DVAs.<\/jats:p>","DOI":"10.1136\/jmg.2007.048934","type":"journal-article","created":{"date-parts":[[2007,5,25]],"date-time":"2007-05-25T21:04:37Z","timestamp":1180127077000},"page":"594-602","source":"Crossref","is-referenced-by-count":264,"title":["The spectrum of vascular anomalies in patients with <i>PTEN<\/i> mutations: implications for diagnosis and management"],"prefix":"10.1136","volume":"44","author":[{"given":"Wen-Hann","family":"Tan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagit N","family":"Baris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia E","family":"Burrows","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline D","family":"Robson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad I","family":"Alomari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B","family":"Mulliken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J","family":"Fishman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mira B","family":"Irons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,5,25]]},"reference":[{"key":"2025101713081278000_44.9.594.1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2004.02.141"},{"key":"2025101713081278000_44.9.594.2","first-page":"2124","volume":"57","year":"1997","journal-title":"Cancer Res"},{"key":"2025101713081278000_44.9.594.3","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5308.1943"},{"key":"2025101713081278000_44.9.594.4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0497-356"},{"key":"2025101713081278000_44.9.594.5","unstructured":"Zbuk K M, Stein J L, Eng C. PTEN hamartoma tumor syndrome (PHTS). In: GeneReviews at GeneTests: Medical Genetics Information Resource (online database) Copyright, University of Washington, Seattle, 1993\u20132007 (updated 10 Jan 2006)]. http:\/\/www.genetests.org\/ Accessed 11 Mar 2007."},{"key":"2025101713081278000_44.9.594.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.52"},{"key":"2025101713081278000_44.9.594.7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440309"},{"key":"2025101713081278000_44.9.594.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018036"},{"key":"2025101713081278000_44.9.594.9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1461"},{"key":"2025101713081278000_44.9.594.10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.507"},{"key":"2025101713081278000_44.9.594.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024646"},{"key":"2025101713081278000_44.9.594.12","doi-asserted-by":"publisher","DOI":"10.1016\/S0899-7071(01)00241-8"},{"key":"2025101713081278000_44.9.594.13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190204"},{"key":"2025101713081278000_44.9.594.14","doi-asserted-by":"publisher","DOI":"10.1097\/01.md.0000158792.24888.d2"},{"key":"2025101713081278000_44.9.594.15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.030569"},{"key":"2025101713081278000_44.9.594.16","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1972.01620140030010"},{"key":"2025101713081278000_44.9.594.17","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1097\/00006534-198203000-00002","volume":"69","year":"1982","journal-title":"Plast Reconstr Surg"},{"key":"2025101713081278000_44.9.594.18","first-page":"375","volume":"13","year":"1997","journal-title":"Adv Dermatol"},{"key":"2025101713081278000_44.9.594.19","doi-asserted-by":"publisher","DOI":"10.1016\/S1064-9689(01)00009-5"},{"key":"2025101713081278000_44.9.594.20","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1148\/radiology.214.3.r00mr21747","volume":"214","year":"2000","journal-title":"Radiology"},{"key":"2025101713081278000_44.9.594.21","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8635(05)70246-1"},{"key":"2025101713081278000_44.9.594.22","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588376"},{"key":"2025101713081278000_44.9.594.23","doi-asserted-by":"publisher","DOI":"10.1086\/377109"},{"key":"2025101713081278000_44.9.594.24","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.5.765"},{"key":"2025101713081278000_44.9.594.25","doi-asserted-by":"publisher","DOI":"10.1007\/BF01743138"},{"key":"2025101713081278000_44.9.594.26","first-page":"1927","volume":"27","year":"2006","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025101713081278000_44.9.594.27","doi-asserted-by":"publisher","DOI":"10.1023\/A:1025713815924"},{"key":"2025101713081278000_44.9.594.28","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1477"},{"key":"2025101713081278000_44.9.594.29","first-page":"1247","volume":"15","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"2025101713081278000_44.9.594.30","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.0000183616.99139.d3"},{"key":"2025101713081278000_44.9.594.31","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1308805"},{"key":"2025101713081278000_44.9.594.32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.162349799"},{"key":"2025101713081278000_44.9.594.33","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81663-3"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.048934","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:08:19Z","timestamp":1760731699000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.048934"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,25]]},"references-count":33,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2007,8,31]]},"published-print":{"date-parts":[[2007,9]]}},"alternative-id":["10.1136\/jmg.2007.048934"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.048934","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,25]]}}}