{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T10:01:37Z","timestamp":1785578497171,"version":"3.56.0"},"reference-count":18,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T00:00:00Z","timestamp":1766534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:p>\n                    Genetic testing based on family history and tumor type may miss numerous germline mutations. This case report describes an adolescent girl with a rare skull-base meningioma. Initial imaging suggested schwannoma but germline genetic testing with schwannomatosis panel (\n                    <jats:italic toggle=\"yes\">NF2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">LZTR1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">SMARCB1<\/jats:italic>\n                    ) was negative. A stepwise surgical approach prioritized facial nerve preservation, followed by tumor removal. Histopathology identified the tumor as a meningothelial meningioma, WHO grade 1, rather than the initially suspected schwannoma. Comprehensive tumor-normal sequencing revealed a germline splice site variant in\n                    <jats:italic toggle=\"yes\">BAP1<\/jats:italic>\n                    (c.122G+1 G&gt;T) and a tier 2 somatic variant in\n                    <jats:italic toggle=\"yes\">PBMR1<\/jats:italic>\n                    (c.3263_3269delinsA). This case highlights the value of combined somatic and germline genomic evaluations in complex diagnoses. Identifying the BAP1 mutation enabled preventive care, genetic testing for relatives, and tailored cancer screening. It underscores the need for thorough genomic assessments and multidisciplinary strategies to optimize outcomes in rare pediatric conditions.\n                  <\/jats:p>","DOI":"10.1177\/08830738251398572","type":"journal-article","created":{"date-parts":[[2025,12,24]],"date-time":"2025-12-24T17:41:53Z","timestamp":1766598113000},"page":"1197-1201","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of\n                    <i>BAP1<\/i>\n                    Germline Mutation in a Pediatric Patient With Skull Base Meningioma"],"prefix":"10.1177","volume":"41","author":[{"given":"Khadija","family":"Jadun","sequence":"first","affiliation":[{"name":"Cleveland Clinic Children's"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5496-3839","authenticated-orcid":false,"given":"Harry","family":"Lesmana","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Children's"},{"name":"Cleveland Clinic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9748-2784","authenticated-orcid":false,"given":"Pablo F.","family":"Recinos","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Lerner College of Medicine of Case Western Reserve University"},{"name":"Section of Skull Base Surgery, Rose Ella Burkhardt Brain Tumor &amp; Neuro-Oncology Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Bokovitz","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Children's"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6386-6763","authenticated-orcid":false,"given":"Patrick","family":"Byrne","sequence":"additional","affiliation":[{"name":"Cleveland Clinic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doksu","family":"Moon","sequence":"additional","affiliation":[{"name":"Cleveland Clinic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Prayson","sequence":"additional","affiliation":[{"name":"Cleveland Clinic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stacey","family":"Zahler","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Children's"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Fischer","sequence":"additional","affiliation":[{"name":"Cleveland Clinic Children's"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1615-1666","authenticated-orcid":false,"given":"Neha J.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Hematology\/Oncology, Oregon Health and Science University, Portland, Oregon, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,12,24]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noz108"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s43018-021-00172-1"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.085241"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.31984"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1821510116"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12885-018-5079-x"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-20-1631"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1508054"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.5.9.3167"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-18636"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2010.11.036"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000001293"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1242196"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature22798"},{"key":"e_1_3_3_16_2","unstructured":"Germline mutations in BAP1 predispose to melanocytic tumors. Nature Genetics. Accessed January 19 2025. https:\/\/www.nature.com\/articles\/ng.910"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-021-02351-x"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1177\/000348940711600710"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000001293"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251398572","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/08830738251398572","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/08830738251398572","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T09:55:23Z","timestamp":1785578123000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/08830738251398572"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,24]]},"references-count":18,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1177\/08830738251398572"],"URL":"https:\/\/doi.org\/10.1177\/08830738251398572","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,24]]}}}