{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T15:25:46Z","timestamp":1785252346362,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T00:00:00Z","timestamp":1649980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Venous malformations (VMs) are the most common vascular anomalies and have been associated with somatic variants in <jats:italic>TEK<\/jats:italic>. Current treatment of VM joint component might be challenging due to the size or location of some lesions or ineffective with recurrence of malformed veins. Targeted molecular therapies after identification of genetic defects might be an alternative.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report a case with intraarticular bleeding due to VM with a <jats:italic>TEK<\/jats:italic> pathogenic somatic variant treated with rapamycin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 26\u2010year\u2010old female patient was evaluated for right calf pain secondary to venous malformation of the right inferior limb with an intraarticular component in the right knee. Hemarthrosis and degenerative chondropathy of the knee were evidenced at MRA. Molecular diagnosis evidenced a pathogenic somatic <jats:italic>TEK<\/jats:italic> variant. Rapamycin was introduced to stop bleeding, with good tolerance and efficacy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The TEK receptor signals through the PI3K\/AKT\/mTOR pathway and <jats:italic>TEK<\/jats:italic> mutations have been linked to AKT activation. As rapamycin acts against angiogenesis and reduces phosphorylated\u2010AKT levels, targeted molecular therapy should be discussed as first\u2010line therapy in patients with proven molecular diagnosis and diffuse VM inaccessible to conventional treatment.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1931","type":"journal-article","created":{"date-parts":[[2022,4,15]],"date-time":"2022-04-15T07:39:39Z","timestamp":1650008379000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Somatic <i>TEK<\/i> variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2955-0922","authenticated-orcid":false,"given":"Salma","family":"Adham","sequence":"first","affiliation":[{"name":"Service de M\u00e9decine Vasculaire CHU Montpellier, H\u00f4pital Saint Eloi  Montpellier France"},{"name":"UMR UA11 INSERM \u2013 UM IDESP Institut Desbrest d'\u00c9pid\u00e9miologie et de Sant\u00e9 Publique Campus Sant\u00e9, IURC  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Cliniques universitaires Saint\u2010Luc Universit\u00e9 catholique de Louvain  Brussels Belgium"},{"name":"Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint\u2010Luc Universit\u00e9 catholique de Louvain  Brussels Belgium"},{"name":"VASCA VASCERN European Reference Centre  Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Mestre","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Vasculaire CHU Montpellier, H\u00f4pital Saint Eloi  Montpellier France"},{"name":"UMR UA11 INSERM \u2013 UM IDESP Institut Desbrest d'\u00c9pid\u00e9miologie et de Sant\u00e9 Publique Campus Sant\u00e9, IURC  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monira","family":"Nou\u2010Howaldt","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Vasculaire CHU Montpellier, H\u00f4pital Saint Eloi  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Vernhet\u2010Kovacsik","sequence":"additional","affiliation":[{"name":"Department of Radiology Arnaud de Villeneuve University Hospital  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Qu\u00e9r\u00e9","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Vasculaire CHU Montpellier, H\u00f4pital Saint Eloi  Montpellier France"},{"name":"UMR UA11 INSERM \u2013 UM IDESP Institut Desbrest d'\u00c9pid\u00e9miologie et de Sant\u00e9 Publique Campus Sant\u00e9, IURC  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamadermatol.2016.1008"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI76004"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dld.2019.04.020"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.272"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv349"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sempedsurg.2020.150973"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1931","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1931","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1931","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T22:32:51Z","timestamp":1692829971000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1931"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,15]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/mgg3.1931"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1931","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,15]]},"assertion":[{"value":"2022-01-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-03-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1931"}}