{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:16:49Z","timestamp":1780316209930,"version":"3.54.1"},"reference-count":28,"publisher":"IMR Press","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br J Hosp Med"],"published-print":{"date-parts":[[2024,10,30]]},"abstract":"<jats:p>Aims\/Background Gangliogliomas are grade 1 glioneuronal tumors occurring predominantly in the temporal lobe, as per the World Health Organization (WHO) classification. Gangliogliomas often harbor BRAF (v-Raf murine sarcoma viral oncogene homolog B1) p.V600E hotspot mutation or other alterations leading to activation of RAS\/RAF\/MAPK (rat sarcoma virus oncogene\/rapidly accelerated fibrosarcoma\/mitogen-activated protein kinase) signaling pathway, which is the driver factor of this tumor. This study aims to investigate a case of ganglioglioma patient with distinctive molecular features, and to present the clinical and pathological characteristics as well as the treatment employed for this individual.<\/jats:p>\n                  <jats:p>Case Presentation We reported a primary ganglioglioma harboring MAP2K1 (mitogen-activated protein kinase kinase 1) mutation and CDKN2A\/B (cyclin-dependent kinase inhibitor 2A\/2B) homozygous deletion in a 4-year-old patient. The patient experienced tumor recurrence 12 months after gross total resection of the tumor. Subsequently, salvage chemotherapy with a combination of temozolomide and irinotecan was administered, resulting in effective control of the tumor.<\/jats:p>\n                  <jats:p>Conclusion To our knowledge, this is the first reported case of ganglioglioma with anaplastic features harboring MAP2K1 mutation and homozygous deletion of CDKN2A\/B. These findings may shed light on the genetic features of ganglioglioma and offers insights into potential therapeutic approaches for this rare neoplasm.<\/jats:p>","DOI":"10.12968\/hmed.2024.0379","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T10:12:31Z","timestamp":1767780751000},"page":"1-10","source":"Crossref","is-referenced-by-count":1,"title":["Ganglioglioma with\n                    <i>MAP2K1<\/i>\n                    Mutation and\n                    <i>CDKN2A\/B<\/i>\n                    Homozygous Deletion: A Case Report"],"prefix":"10.31083","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-9982-1549","authenticated-orcid":false,"given":"Chi","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Neuro-Oncology, Sanbo Brain Hospital, Capital Medical University, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neuro-Oncology, Sanbo Brain Hospital, Capital Medical University, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Jing","family":"Ge","sequence":"additional","affiliation":[{"name":"Department of Neuro-Oncology, Sanbo Brain Hospital, Capital Medical University, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Ping","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neuro-Oncology, Sanbo Brain Hospital, Capital Medical University, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"16242","reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.22.01000"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-019-0763-x"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.11.6328"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.3171\/2012.7.JNS111260"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/s11060-016-2318-3"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1417549111"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-17-1452"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(21)02175-9"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa043331"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.06.024"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12035"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2009.27.3359"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2016.71.8726"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.29031"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/noab106"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.20332"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.2478\/raon-2014-0021"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1111\/neup.12217"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-018-0551-z"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-018-1820-4"},{"key":"B21","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199507000-00005"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12555"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlae038"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.3389\/pore.2023.1611391"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1016\/S1470-2045(17)30194-8"},{"key":"B26","volume-title":"World Health Organization Classification of Tumours of the Central Nervous System","author":"WHO Classification of Tumours Editorial Board.","year":"2021","edition":"5"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294510"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/not169"}],"container-title":["British Journal of Hospital Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.magonlinelibrary.com\/doi\/pdf\/10.12968\/hmed.2024.0379","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T10:00:42Z","timestamp":1770372042000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.imrpress.com\/journal\/BJHM\/85\/10\/10.12968\/hmed.2024.0379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,30]]},"references-count":28,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10,30]]}},"alternative-id":["10.12968\/hmed.2024.0379"],"URL":"https:\/\/doi.org\/10.12968\/hmed.2024.0379","relation":{},"ISSN":["1750-8460","1759-7390"],"issn-type":[{"value":"1750-8460","type":"print"},{"value":"1759-7390","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,30]]}}}