Invited review

• Verfasst von: Johann, Pascal-David [VerfasserIn]
• Titel: Invited review
• Titelzusatz: dysregulation of chromatin remodellers in paediatric brain tumours - SMARCB1 and beyond
• Verf.angabe: P.D. Johann
• E-Jahr: 2020
• Jahr: 19 April 2020
• Umfang: 16 S.
• Fussnoten: Gesehen am 07.01.2021
• Titel Quelle: Enthalten in: Neuropathology & applied neurobiology
• Ort Quelle: Oxford [u.a.] : Wiley-Blackwell, 1975
• Jahr Quelle: 2020
• Band/Heft Quelle: 46(2020), 1, Seite 57-72
• ISSN Quelle: 1365-2990
• DOI: doi:10.1111/nan.12616
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: AT/RT
• Sach-SW: Medulloblastoma
• Sach-SW: SMARCA4
• Sach-SW: SMARCB1
• Sach-SW: SWI/SNF
• K10plus-PPN: 1744180911

Abstract

Mutations in chromatin remodelling genes occur in approximately 25% of all human tumours (Kadoch et al. Nat Genet 45: 592-601, 2013). The spectrum of alterations is broad and comprises single nucleotide variants, insertion/deletions and more complex structural variations. The single most often affected remodelling complex is the SWI/SNF complex (SWItch/sucrose non-fermentable). In the field of paediatric neuro-oncology, the spectrum of affected genes implicated in epigenetic remodelling is narrower with SMARCB1 and SMARCA4 being the most frequent. The low mutation frequencies in many of the SWI/SNF mutant entities underline the fact that perturbed chromatin remodelling is the most salient factor in tumourigenesis and could thus be a potential therapeutic opportunity. Here, I review the genetic basis of aberrant chromatin remodelling in paediatric brain tumours and discuss their impact on the epigenome in the respective entities, mainly medulloblastomas and rhabdoid tumours.