{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:54:46Z","timestamp":1791273286978,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects multiple organ systems, most commonly the skin, peripheral nerves, and skeletal system. However, involvement of the anterior mediastinum is rare and has been sporadically reported in the literature. Patients with NF1 have a markedly increased risk of developing malignant peripheral nerve sheath tumors (MPNSTs), which are associated with poor 5\u2010year survival outcomes; therefore, early diagnosis and timely intervention are essential to improving clinical outcomes. We report a case of a solitary neurofibroma located in the anterosuperior mediastinum of a 41\u2010year\u2010old male of Han ethnicity. The tumor was completely resected via uniportal video\u2010assisted thoracoscopic surgery (VATS). Immunohistochemical (IHC) analysis showed positivity for SOX10, S100, CD34, and vimentin, with a Ki\u201067 proliferation index of &lt;\u20091%. Genetic analysis of tumor tissue identified two heterozygous nonsense variants in the NF1 gene: c.147C&gt;G (p.Tyr49Ter), a rare pathogenic variant, and c.1318C&gt;T (p.Arg440Ter), a common pathogenic variant. Concurrently, next\u2010generation sequencing of the patient's son's blood sample revealed only the c.147C&gt;G (p.Tyr49Ter) variant. No evidence of recurrence was observed during a 1\u2010year postoperative follow\u2010up. This case underscores the importance of a comprehensive, multidisciplinary approach in the evaluation of mediastinal masses to achieve an accurate diagnosis. Furthermore, it highlights the role of genetic testing in facilitating risk stratification and informing preventive strategies aimed at reducing the risk of progression from NF1 to MPNSTs.<\/jats:p>","DOI":"10.1002\/ccr3.73342","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T08:49:26Z","timestamp":1788943766000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.\n                    <scp>147C<\/scp>\n                    &gt;G Germline Mutation: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2447-4580","authenticated-orcid":false,"given":"Yuhao","family":"Qi","sequence":"first","affiliation":[{"name":"Department of Thoracic Surgery Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shenghai","family":"Wang","sequence":"additional","affiliation":[{"name":"Qinghai University School of Medicine  Xining Qinghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhaokun","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianhua","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Thoracic Surgery Shandong Provincial Hospital Affiliated to Shandong First Medical University  Jinan Shandong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"e_1_2_16_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1579766"},{"key":"e_1_2_16_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers12010114"},{"key":"e_1_2_16_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13402-025-01054-9"},{"issue":"3","key":"e_1_2_16_5_1","first-page":"297","article-title":"Neurofibromin in Neurofibromatosis Type 1 \u2010 Mutations in NF1gene as a Cause of Disease","volume":"18","author":"Abramowicz A.","year":"2014","journal-title":"Developmental Period Medicine"},{"key":"e_1_2_16_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22115850"},{"key":"e_1_2_16_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90150-D"},{"key":"e_1_2_16_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3911"},{"key":"e_1_2_16_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302809"},{"key":"e_1_2_16_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2010.09.002"},{"key":"e_1_2_16_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.6.975"},{"key":"e_1_2_16_12_1","doi-asserted-by":"publisher","DOI":"10.2741\/3727"},{"issue":"3","key":"e_1_2_16_13_1","first-page":"172","article-title":"Neurofibromatosis. Bethesda, Md., USA, July 13\u201315, 1987","volume":"1","author":"National Institutes of Health Consensus Development Conference Statement","year":"1988","journal-title":"Neurofibromatosis"},{"key":"e_1_2_16_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01170-5"},{"issue":"4","key":"e_1_2_16_15_1","first-page":"109","article-title":"Giant Mediastinal Mass in a 3\u2010Year\u2010Old Boy: A Rare Presentation of Neurofibromatosis Type I","volume":"15","author":"Karami H.","year":"2021","journal-title":"Iranian Journal of Child Neurology"},{"key":"e_1_2_16_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0145561320933959"},{"key":"e_1_2_16_17_1","doi-asserted-by":"publisher","DOI":"10.7150\/ijms.78386"},{"key":"e_1_2_16_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noaa071"},{"key":"e_1_2_16_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/noajnl\/vdaa138"},{"key":"e_1_2_16_20_1","doi-asserted-by":"publisher","DOI":"10.1080\/13543784.2023.2263836"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73342","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.73342","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73342","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:38:00Z","timestamp":1791272280000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.73342"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":19,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/ccr3.73342"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.73342","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"2026-04-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-09","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e73342"}}