> Details

Korshunov, Andrey; Okonechnikov, Konstantin; Schmitt-Hoffner, Felix; Ryzhova, Marina; Sahm, Felix; Stichel, Damian; Schrimpf, Daniel; Reuss, David E.; Sievers, Philipp; Suwala, Abigail Kora; Kumirova, Ella; Zheludkova, Olga; Golanov, Andrey; Jones, David T. W.; Pfister, Stefan M.; Kool, Marcel; von Deimling, Andreas

Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation

Reference
management

Bookmarks

Remove from
bookmarks

Share this on Whatsapp

Close

Bookmarks



You can manage bookmarks using lists, please log in to your user account for this.
  • Media type: E-Article
  • Title: Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation
  • Contributor: Korshunov, Andrey; Okonechnikov, Konstantin; Schmitt-Hoffner, Felix; Ryzhova, Marina; Sahm, Felix; Stichel, Damian; Schrimpf, Daniel; Reuss, David E.; Sievers, Philipp; Suwala, Abigail Kora; Kumirova, Ella; Zheludkova, Olga; Golanov, Andrey; Jones, David T. W.; Pfister, Stefan M.; Kool, Marcel; von Deimling, Andreas
  • imprint: Springer Science and Business Media LLC, 2021
  • Published in: Acta Neuropathologica Communications
  • Language: English
  • DOI: 10.1186/s40478-021-01118-5
  • ISSN: 2051-5960
  • Keywords: Cellular and Molecular Neuroscience ; Neurology (clinical) ; Pathology and Forensic Medicine
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>Primitive neuroectodermal tumors of the central nervous system (CNS-PNETs) are highly malignant neoplasms posing diagnostic challenge due to a lack of defining molecular markers. CNS neuroblastoma with forkhead box R2 (<jats:italic>FOXR2</jats:italic>) activation (CNS_NBL) emerged as a distinct pediatric brain tumor entity from a pool previously diagnosed as primitive neuroectodermal tumors of the central nervous system (CNS-PNETs). Current standard of identifying CNS_NBL relies on molecular analysis. We set out to establish immunohistochemical markers allowing safely distinguishing CNS_NBL from morphological mimics. To this aim we analyzed a series of 84 brain tumors institutionally diagnosed as CNS-PNET. As expected, epigenetic analysis revealed different methylation groups corresponding to the (1) CNS-NBL (24%), (2) glioblastoma IDH wild-type subclass H3.3 G34 (26%), (3) glioblastoma IDH wild-type subclass MYCN (21%) and (4) ependymoma with <jats:italic>RELA_C11orf95</jats:italic> fusion (29%) entities. Transcriptome analysis of this series revealed a set of differentially expressed genes distinguishing CNS_NBL from its mimics. Based on RNA-sequencing data we established <jats:italic>SOX10</jats:italic> and <jats:italic>ANKRD55</jats:italic> expression as genes discriminating CNS_NBL from other tumors exhibiting CNS-PNET. Immunohistochemical detection of combined expression of SOX10 and ANKRD55 clearly identifies CNS_NBL discriminating them to other hemispheric CNS neoplasms harboring “PNET-like” microscopic appearance. Owing the rarity of CNS_NBL, a confirmation of the elaborated diagnostic IHC algorithm will be necessary in prospective patient series.</jats:p>
  • Access State: Open Access