{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T02:36:34Z","timestamp":1777948594257,"version":"3.51.4"},"reference-count":7,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004043","name":"Kanazawa Medical University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004043","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Multifocal venous malformation (VM) is a rare vascular disorder characterized by multiple cutaneous and visceral venous malformations caused by somatic variants in the\n                    <jats:italic>TEK<\/jats:italic>\n                    gene, which encodes the TIE2 receptor. We report a 30\u2010year\u2010old man presenting with multiple subcutaneous nodules and oral lesions. MRI revealed multiple masses around the left scapula. A biopsy from a lumbar lesion showed dilated venous channels, and immunohistochemistry was positive for CD31. There was no evidence of anemia. Genetic analysis using next\u2010generation sequencing of both skin and blood identified two somatic\n                    <jats:italic>TEK<\/jats:italic>\n                    variants, p.(Tyr897Cys) and p.(Arg918His), restricted to the lesion tissue. Bulk phasing analysis revealed that Y897C and R918H existed both as single variants and as double variants in cis. The absence of these variants in blood confirmed their somatic origin. Based on clinical and pathological findings, the patient was diagnosed with multifocal VM. Clinically, this case resembled multifocal sporadic VM; however, the genetic profile was consistent with blue rubber bleb nevus syndrome, suggesting this case may represent an intermediate phenotype between the two entities. The involvement of the PI3K\/AKT\/mTOR signaling pathway implies potential therapeutic benefit from mTOR inhibitors, such as sirolimus. Close follow\u2010up is ongoing due to progressive oral involvement.\n                  <\/jats:p>","DOI":"10.1111\/1346-8138.70078","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T07:46:37Z","timestamp":1764661597000},"page":"314-317","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Multifocal Venous Malformation With Two Somatic Pathogenic Variants in the\n                    <scp>\n                      <i>TEK<\/i>\n                    <\/scp>\n                    Gene"],"prefix":"10.1111","volume":"53","author":[{"given":"Sawako","family":"Ochiai","sequence":"first","affiliation":[{"name":"Department of Dermatology Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0216-0256","authenticated-orcid":false,"given":"Hiroto","family":"Ono","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7742-079X","authenticated-orcid":false,"given":"Akira","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Department of Dermatology Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumihito","family":"Togi","sequence":"additional","affiliation":[{"name":"Center for Clinical Genomics Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroki","family":"Ura","sequence":"additional","affiliation":[{"name":"Center for Clinical Genomics Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-7962","authenticated-orcid":false,"given":"Yo","family":"Niida","sequence":"additional","affiliation":[{"name":"Center for Clinical Genomics Kanazawa Medical University  Uchinada Ishikawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,1]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.07.034"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01929-8"},{"key":"e_1_2_7_4_1","article-title":"Streamlining Genetic Diagnosis With Long\u2010Range Polymerase Chain Reaction (PCR)\u2010Based Next\u2010Generation Sequencing for Type I and Type II Collagenopathies","volume":"15","author":"Niida Y.","year":"2023","journal-title":"Cureus"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.193"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jvs.2011.06.098"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2023.100807"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2024.02.004"}],"container-title":["The Journal of Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.70078","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/1346-8138.70078","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/1346-8138.70078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:32:12Z","timestamp":1777804332000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/1346-8138.70078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,1]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,2]]}},"alternative-id":["10.1111\/1346-8138.70078"],"URL":"https:\/\/doi.org\/10.1111\/1346-8138.70078","archive":["Portico"],"relation":{},"ISSN":["0385-2407","1346-8138"],"issn-type":[{"value":"0385-2407","type":"print"},{"value":"1346-8138","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,1]]},"assertion":[{"value":"2025-07-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}