{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T13:09:57Z","timestamp":1767964197705,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T00:00:00Z","timestamp":1511913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"A 28\u2010year\u2010old female with PIK3CA<\/jats:styled-content><\/jats:italic>\u2010related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS<\/jats:styled-content>), as well as 3 small (<2\u2009cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2<\/jats:styled-content>) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA<\/jats:styled-content><\/jats:italic> c.2740G<\/jats:styled-content>>A (p.Gly914Arg<\/jats:styled-content>) mutation, confirming the diagnosis of PIK3CA<\/jats:styled-content><\/jats:italic>\u2010related overgrowth, but no mutations in NF2<\/jats:styled-content><\/jats:italic> were detected. Although VS<\/jats:styled-content> has not previously been reported in PIK3CA<\/jats:styled-content><\/jats:italic>\u2010related segmental overgrowth, meningiomas have, raising the question of whether this patient's VS<\/jats:styled-content> and meningiomas represent coincidental NF2<\/jats:styled-content> or phenotypic extension of her overgrowth syndrome. Genetic analysis of the VS<\/jats:styled-content> revealed a heterozygous NF2<\/jats:styled-content><\/jats:italic> mutation c.784C<\/jats:styled-content>>T (p.Arg262Ter<\/jats:styled-content>) and loss of a portion of 22q, including NF2<\/jats:styled-content><\/jats:italic>, SMARCB1<\/jats:styled-content><\/jats:italic>, and LZTR1<\/jats:styled-content><\/jats:italic> genes. These results suggest that the patient has 2 different mosaic disorders, NF2<\/jats:styled-content> and PIK3CA<\/jats:styled-content><\/jats:italic>\u2010related overgrowth. The PIK3CA<\/jats:styled-content><\/jats:italic> mutation was also present in the VS<\/jats:styled-content>. Confirmation of the clinical diagnosis of mosaic NF2<\/jats:styled-content> in this patient has implications for monitoring and highlights the possibility of co\u2010occurrence of mosaicism for multiple rare disorders in a single patient.<\/jats:p>","DOI":"10.1111\/cge.13099","type":"journal-article","created":{"date-parts":[[2017,7,24]],"date-time":"2017-07-24T11:42:44Z","timestamp":1500896564000},"page":"187-190","source":"Crossref","is-referenced-by-count":10,"title":["Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA<\/scp><\/i>\u2010related segmental overgrowth: Co\u2010occurrence of mosaicism for 2 rare disorders"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1025-4760","authenticated-orcid":false,"given":"J.R.","family":"Mills","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Moyer","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.R.","family":"Kipp","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.B.","family":"Poplawski","sequence":"additional","affiliation":[{"name":"Medical Genomics Laboratory, Department of Genetics University of Alabama Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.M.","family":"Messiaen","sequence":"additional","affiliation":[{"name":"Medical Genomics Laboratory, Department of Genetics University of Alabama Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Babovic\u2010Vuksanovic","sequence":"additional","affiliation":[{"name":"Department of Clinical Genomics Mayo Clinic Rochester Minnesota"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,11,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_5_3_1","doi-asserted-by":"crossref","DOI":"10.1038\/gim.2016.220","article-title":"Molecular diagnosis of PIK3CA\u2010related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing","volume":"19","author":"Kuentz P","year":"2017","journal-title":"Genet Med"},{"key":"e_1_2_5_4_1","article-title":"PIK3CA\u2010associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution","author":"Mirzaa G","year":"2016","journal-title":"JCI Insight"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20551"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33514"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199710000-00001"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archdermatol.2008.545"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36836"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.047753"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33139"},{"key":"e_1_2_5_12_1","first-page":"603","article-title":"A clinical study of type 2 neurofibromatosis","volume":"84","author":"Evans DG","year":"1992","journal-title":"Q J Med"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34376"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/422700"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/60.10.994"},{"key":"e_1_2_5_16_1","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1212\/01.WNL.0000035638.74084.F4","article-title":"Evaluation of clinical diagnostic criteria for neurofibromatosis 2","volume":"59","author":"Baser ME, Friedman JM, Wallace AJ, Ramsden RT, Joe H, Evans DG.","year":"2002","journal-title":"Neurology"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318211faa9"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102973"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2010.363"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13099","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13099","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T01:59:39Z","timestamp":1696039179000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,29]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1111\/cge.13099"],"URL":"https:\/\/doi.org\/10.1111\/cge.13099","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,29]]}}}