{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T17:30:37Z","timestamp":1792690237368,"version":"4.5.0"},"reference-count":54,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"23","license":[{"start":{"date-parts":[[2022,6,6]],"date-time":"2022-06-06T00:00:00Z","timestamp":1654473600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,6]]},"abstract":"\n BACKGROUND<\/jats:title>\n \n In the past decade, next-generation sequencing has spurred significant progress in the understanding of cytogenetic alterations that occur in meningiomas. Eighty percent of adult meningiomas harbor pathogenic somatic variants involving\n NF2<\/jats:italic>\n ,\n TRAF7<\/jats:italic>\n ,\n SMARCB1<\/jats:italic>\n ,\n KLF4<\/jats:italic>\n ,\n PI3K<\/jats:italic>\n , or\n POLR2A.<\/jats:italic>\n Somatic variants in\n TRAF7<\/jats:italic>\n associated with meningiomas usually localize to the gene\u2019s WD40 domains but are mutually exclusive to germline mutations, which cause a distinctive autosomal dominant syndrome.\n <\/jats:p>\n <\/jats:sec>\n \n OBSERVATIONS<\/jats:title>\n \n This case involved a 15-year-old girl with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis, and syndromic features, including craniosynostosis, brain anomalies, syndactyly, brachydactyly, epicanthus, and patent ductus arteriosus. Genetic testing of the meningioma specimen 7 years after biopsy showed a pathogenic p.R641C variant within the WD40 domain of the\n TRAF7<\/jats:italic>\n gene. Additional testing of unaffected tissues identified the same variant at lower allele frequencies, consistent with postzygotic somatic mosaicism.\n <\/jats:p>\n <\/jats:sec>\n \n LESSONS<\/jats:title>\n \n The authors report postzygotic somatic mosaicism for a p.R641C variant in the\n TRAF7<\/jats:italic>\n gene in a patient with bilateral optic nerve sheath meningiomas, diffuse meningiomatosis and a constellation of systemic findings previously recognized in patients with germline mutations of this gene. This is the first report of optic nerve sheath meningioma in a patient with mutation in the\n TRAF7<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/case2247","type":"journal-article","created":{"date-parts":[[2022,6,13]],"date-time":"2022-06-13T03:51:49Z","timestamp":1655092309000},"source":"Crossref","is-referenced-by-count":3,"title":["TRAF7 somatic mosaicism in a patient with bilateral optic nerve sheath meningiomas: illustrative case"],"prefix":"10.3171","volume":"3","author":[{"given":"Georgia","family":"Kaidonis","sequence":"first","affiliation":[{"name":"Departments of Ophthalmology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melike","family":"Pekmezci","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology"},{"name":"Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Van Ziffle","sequence":"additional","affiliation":[{"name":"Pathology, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurtis I.","family":"Auguste","sequence":"additional","affiliation":[{"name":"Neurosurgery, University of California, San Francisco, San Francisco, California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan C.","family":"Horton","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"issue":"5110","key":"b1","series-title":"Nature","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1038\/216084a0","article-title":"Chromosomal constitution of meningiomas","volume":"216","author":"Zang KD","year":"1967","unstructured":"Zang KD, Singer H. 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