{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T11:09:55Z","timestamp":1778756995861,"version":"3.51.4"},"reference-count":77,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T00:00:00Z","timestamp":1627257600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Rare central nervous system (CNS) tumours represent a unique challenge. Given the difficulty of conducting dedicated clinical trials, there is a lack of therapies for these tumours supported by high quality evidence, and knowledge regarding the impact of standard treatments (i.e., surgery, radiotherapy or chemotherapy) is commonly based on retrospective studies. Recently, new molecular techniques have led to the discovery of actionable molecular alterations. The aim of this article is to review recent progress in the molecular understanding of and therapeutic options for rare brain tumours, both in children and adults. We will discuss options such as targeting the mechanistic target of rapamycin (mTOR) pathway in subependymal giant cells astrocytomas (SEGAs) of tuberous sclerosis and BRAF V600E mutation in rare glial (pleomorphic xanthoastrocytomas) or glioneuronal (gangliogliomas) tumours, which are a model of how specific molecular treatments can also favourably impact neurological symptoms (such as seizures) and quality of life. Moreover, we will discuss initial experiences in targeting new molecular alterations in gliomas, such as isocitrate dehydrogenase (IDH) mutations and neurotrophic tyrosine receptor kinase (NTRK) fusions, and in medulloblastomas such as the sonic hedgehog (SHH) pathway.<\/jats:p>","DOI":"10.3390\/ijms22157949","type":"journal-article","created":{"date-parts":[[2021,7,26]],"date-time":"2021-07-26T09:25:52Z","timestamp":1627291552000},"page":"7949","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Targeted Therapies in Rare Brain Tumours"],"prefix":"10.3390","volume":"22","author":[{"given":"Francesco","family":"Bruno","sequence":"first","affiliation":[{"name":"Department Neuro-Oncology, University and City of Health and Science, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3243-0059","authenticated-orcid":false,"given":"Alessia","family":"Pellerino","sequence":"additional","affiliation":[{"name":"Department Neuro-Oncology, University and City of Health and Science, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9887-7668","authenticated-orcid":false,"given":"Luca","family":"Bertero","sequence":"additional","affiliation":[{"name":"Pathology Unit, Department of Medical Sciences, University and City of Health and Science, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9204-7038","authenticated-orcid":false,"given":"Riccardo","family":"Soffietti","sequence":"additional","affiliation":[{"name":"Department Neuro-Oncology, University and City of Health and Science, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Rud\u00e0","sequence":"additional","affiliation":[{"name":"Department Neuro-Oncology, University and City of Health and Science, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"iv1","DOI":"10.1093\/neuonc\/noaa200","article-title":"CBTRUS Statistical report: Primary brain and other central nervous system tumors diagnosed in the United States in 2013\u20132017","volume":"22","author":"Ostrom","year":"2020","journal-title":"Neuro-Oncology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/S1470-2045(17)30445-X","article-title":"Burden and centralised treatment in Europe of rare tumours: Results of RARECAREnet\u2014A population-based study","volume":"18","author":"Gatta","year":"2017","journal-title":"Lancet Oncol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1498","DOI":"10.1093\/neuonc\/noz119","article-title":"The medical necessity of advanced molecular testing in the diagnosis and treatment of brain tumor patients","volume":"21","author":"Horbinski","year":"2019","journal-title":"Neuro-Oncology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/ane.13416","article-title":"Epilepsy in adult patients with tuberous sclerosis complex","volume":"144","author":"Vignoli","year":"2021","journal-title":"Acta Neurol. 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