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

  1. Korshunov, Andrey
  2. Okonechnikov, Konstantin
  3. Schmitt-Hoffner, Felix
  4. Ryzhova, Marina
  5. Sahm, Felix
  6. Stichel, Damian
  7. Schrimpf, Daniel
  8. Reuss, David E.
  9. Sievers, Philipp
  10. Suwala, Abigail Kora
  11. Kumirova, Ella
  12. Zheludkova, Olga
  13. Golanov, Andrey
  14. Jones, David T. W.
  15. Pfister, Stefan M.
  16. Kool, Marcel
  17. von Deimling, Andreas

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1000 Titel
  • Molecular analysis of pediatric CNS-PNET revealed nosologic heterogeneity and potent diagnostic markers for CNS neuroblastoma with FOXR2-activation
1000 Autor/in
  1. Korshunov, Andrey |
  2. Okonechnikov, Konstantin |
  3. Schmitt-Hoffner, Felix |
  4. Ryzhova, Marina |
  5. Sahm, Felix |
  6. Stichel, Damian |
  7. Schrimpf, Daniel |
  8. Reuss, David E. |
  9. Sievers, Philipp |
  10. Suwala, Abigail Kora |
  11. Kumirova, Ella |
  12. Zheludkova, Olga |
  13. Golanov, Andrey |
  14. Jones, David T. W. |
  15. Pfister, Stefan M. |
  16. Kool, Marcel |
  17. von Deimling, Andreas |
1000 Erscheinungsjahr 2021
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2021-02-03
1000 Erschienen in
1000 Quellenangabe
  • 9(1):20
1000 Copyrightjahr
  • 2021
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1186/s40478-021-01118-5 |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7860633/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • 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 (FOXR2) 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 RELA_C11orf95 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 SOX10 and ANKRD55 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.
1000 Sacherschließung
lokal DNA Methylation/genetics [MeSH]
lokal Neuroectodermal Tumors, Primitive/classification [MeSH]
lokal Neuroblastoma/genetics [MeSH]
lokal Forkhead Transcription Factors/genetics [MeSH]
lokal Neuroectodermal Tumors, Primitive/genetics [MeSH]
lokal Male [MeSH]
lokal Carrier Proteins/genetics [MeSH]
lokal Central Nervous System Neoplasms/pathology [MeSH]
lokal SOX10
lokal Child [MeSH]
lokal Adolescent [MeSH]
lokal Female [MeSH]
lokal Neuroectodermal Tumors, Primitive/pathology [MeSH]
lokal CNS-PNET
lokal Humans [MeSH]
lokal Neuroblastoma/diagnosis [MeSH]
lokal Neuroblastoma/pathology [MeSH]
lokal SOXE Transcription Factors/genetics [MeSH]
lokal Immunohistochemistry [MeSH]
lokal Central Nervous System Neoplasms/genetics [MeSH]
lokal Research
lokal Biomarkers, Tumor/genetics [MeSH]
lokal Neuroectodermal Tumors, Primitive/diagnosis [MeSH]
lokal Central Nervous System Neoplasms/diagnosis [MeSH]
lokal Gene Expression Profiling [MeSH]
lokal Neuroblastoma
lokal Central Nervous System Neoplasms/classification [MeSH]
lokal Child, Preschool [MeSH]
1000 Liste der Beteiligten
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1000 Erstellt am 2023-11-16T03:51:36.232+0100
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