{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,21]],"date-time":"2025-03-21T04:09:38Z","timestamp":1742530178125,"version":"3.40.1"},"reference-count":46,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T00:00:00Z","timestamp":1735603200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas. However, RTS-associated meningiomas are rarely reported. We report a unique RTS-associated meningioma in which an oncogenic CREBBP mutation is identified. We also comprehensively review the reported RTS-associated meningiomas, from epidemiology and pathogenesis to clinicopathological characteristics and treatment. All RTS patients with meningiomas are female and have the exclusive mutations of CREBBP. In population-based studies RTS-associated meningiomas seem to develop at younger ages. Their pathogenesis may be driven by the CREBBP\/CBP alterations resulting in aberrant signal transduction in the CBP-mediated signaling pathways. Meningiomas in RTS patients have common clinicopathological characteristics including comorbidity with other tumors, radiologically intra-osseous growth, and uncommon histopathology such as ossifying and secretory features. Given the genetic nature and rarity of RTS-associated meningiomas, further investigation of their characteristics may define molecular targets for improved therapeutic options for RTS patients.<\/jats:p>","DOI":"10.1093\/jnen\/nlae135","type":"journal-article","created":{"date-parts":[[2024,12,31]],"date-time":"2024-12-31T23:16:36Z","timestamp":1735686996000},"page":"329-336","source":"Crossref","is-referenced-by-count":0,"title":["Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review"],"prefix":"10.1093","volume":"84","author":[{"given":"Andrea","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Pathology and Molecular Medicine, McMaster University , Hamilton, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shannon Louise","family":"Hart","sequence":"additional","affiliation":[{"name":"Department of Surgery\/Neurosurgery, McMaster University , Hamilton, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Lannon","sequence":"additional","affiliation":[{"name":"Department of Surgery\/Neurosurgery, McMaster University , Hamilton, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2618-4402","authenticated-orcid":false,"given":"Cynthia","family":"Hawkins","sequence":"additional","affiliation":[{"name":"Department of Paediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto , Toronto, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kesava K V","family":"Reddy","sequence":"additional","affiliation":[{"name":"Department of Surgery\/Neurosurgery, McMaster University , Hamilton, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1945-5569","authenticated-orcid":false,"given":"Jian-Qiang","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pathology and Molecular Medicine, McMaster University , Hamilton, Ontario,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,12,31]]},"reference":[{"key":"2025032010584460800_nlae135-B1","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1002\/ajmg.a.38603","article-title":"Benign and malignant tumors in Rubinstein\u2013Taybi syndrome","volume":"176","author":"Boot","year":"2018","journal-title":"Am J Med Genet A"},{"key":"2025032010584460800_nlae135-B2","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1086\/429130","article-title":"Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause 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