{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T11:47:42Z","timestamp":1772797662391,"version":"3.50.1"},"reference-count":16,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["P30 CA016672"],"award-info":[{"award-number":["P30 CA016672"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["KC200096P1"],"award-info":[{"award-number":["KC200096P1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["RP180819"],"award-info":[{"award-number":["RP180819"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"United States Department of Defense","award":["P30 CA016672"],"award-info":[{"award-number":["P30 CA016672"]}]},{"name":"United States Department of Defense","award":["KC200096P1"],"award-info":[{"award-number":["KC200096P1"]}]},{"name":"United States Department of Defense","award":["RP180819"],"award-info":[{"award-number":["RP180819"]}]},{"name":"Pediatric Solid Tumors Comprehensive Data Resource Core","award":["P30 CA016672"],"award-info":[{"award-number":["P30 CA016672"]}]},{"name":"Pediatric Solid Tumors Comprehensive Data Resource Core","award":["KC200096P1"],"award-info":[{"award-number":["KC200096P1"]}]},{"name":"Pediatric Solid Tumors Comprehensive Data Resource Core","award":["RP180819"],"award-info":[{"award-number":["RP180819"]}]},{"name":"MD Anderson Cancer Center Institutional Tissue Bank","award":["P30 CA016672"],"award-info":[{"award-number":["P30 CA016672"]}]},{"name":"MD Anderson Cancer Center Institutional Tissue Bank","award":["KC200096P1"],"award-info":[{"award-number":["KC200096P1"]}]},{"name":"MD Anderson Cancer Center Institutional Tissue Bank","award":["RP180819"],"award-info":[{"award-number":["RP180819"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Current Oncology"],"abstract":"<jats:p>We present, to our knowledge, the first reported case of germline neurofibromatosis Type 2 (NF2) associated with renal cell carcinoma unclassified with medullary phenotype (RCCU-MP) with somatic loss by immunohistochemistry of the SMARCB1 tumor suppressor gene located centromeric to NF2 on chromosome 22q. Our patient is a 15-year-old with germline neurofibromatosis Type 2 (NF2) confirmed by pathogenic mutation of c.-854-??46+??deletion. Her NF2 history is positive for a right optic nerve sheath meningioma, CNIII schwannoma requiring radiation therapy and post gross total resection of right frontotemporal anaplastic meningioma followed by radiation. At age 15 she developed new onset weight loss and abdominal pain due to RCCU-MP. Hemoglobin electrophoresis was negative for sickle hemoglobinopathy. Chemotherapy (cisplatin, gemcitabine and paclitaxel) was initiated followed by radical resection. Given the unique renal pathology of a high grade malignancy with loss of SMARCB1 expression via immunohistochemistry, and history of meningioma with MLH1 loss of expression and retained expression of PMS2, MSH2 and MSH6, further germline genetic testing was sent for SMARCB1 and mismatch repair syndromes. Germline testing was negative for mutation in SMARCB1. Therefore, this is the first reported case of RCCU-MP associated with germline NF2 mutation. This suggests the importance of closer surveillance in the adolescent and young adult population with NF2 with any suspicious findings of malignancy outside of the usual scope of practice with NF2.<\/jats:p>","DOI":"10.3390\/curroncol30030255","type":"journal-article","created":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T06:57:11Z","timestamp":1678777031000},"page":"3355-3365","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Renal Cell Carcinoma Unclassified with Medullary Phenotype in a Patient with Neurofibromatosis Type 2"],"prefix":"10.3390","volume":"30","author":[{"given":"Sanila","family":"Sarkar","sequence":"first","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Whitney","family":"Throckmorton","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Racheal","family":"Bingham","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6505-8308","authenticated-orcid":false,"given":"Pavlos","family":"Msaouel","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giannicola","family":"Genovese","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Slopis","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya","family":"Rao","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zsila","family":"Sadighi","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia E.","family":"Herzog","sequence":"additional","affiliation":[{"name":"MD Anderson Cancer Care Center, University of Texas, Houston, TX 77030, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.pediatrneurol.2018.08.006","article-title":"Genetic Evaluation of Common Neurocutaneous Syndromes","volume":"89","year":"2018","journal-title":"Pediatr. 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