Skip to main content
Log in

Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile

  • Correspondence
  • Published:
Acta Neuropathologica Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1
Fig. 2

References

  1. Baisden BL, Brat DJ, Melhem ER, Rosenblum MK, King AP, Burger PC (2001) Dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum: a lesion often misdiagnosed as glioma: report of 10 cases. Am J Surg Pathol 25:494–499

    Article  PubMed  CAS  Google Scholar 

  2. Bridge JA, Liu XQ, Sumegi J et al (2013) Identification of a novel, recurrent SLC44A1-PRKCA fusion in papillary glioneuronal tumor. Brain Pathol 23:121–128

    Article  PubMed  CAS  Google Scholar 

  3. Capper D, Jones DTW, Sill M et al (2018) DNA methylation-based classification of central nervous system tumours. Nature 555:469–474

    Article  PubMed  CAS  PubMed Central  Google Scholar 

  4. Ellezam B, Theeler BJ, Luthra R, Adesina AM, Aldape KD, Gilbert MR (2012) Recurrent PIK3CA mutations in rosette-forming glioneuronal tumor. Acta Neuropathol 123:285–287

    Article  PubMed  Google Scholar 

  5. Gessi M, Hattingen E, Dorner E et al (2016) Dysembryoplastic neuroepithelial tumor of the septum pellucidum and the supratentorial midline: histopathologic, neuroradiologic, and molecular features of 7 cases. Am J Surg Pathol 40:806–811

    Article  PubMed  Google Scholar 

  6. Gessi M, Moneim YA, Hammes J et al (2014) FGFR1 mutations in rosette-forming glioneuronal tumors of the fourth ventricle. J Neuropathol Exp Neurol 73:580–584

    Article  PubMed  CAS  Google Scholar 

  7. Goode B, Mondal G, Hyun M et al (2018) A recurrent kinase domain mutation in PRKCA defines chordoid glioma of the third ventricle. Nat Commun 9:810

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  8. Iorgulescu JB, Van Ziffle J, Stevers M et al (2018) Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation. Acta Neuropathol 135:635–638

    Article  PubMed  Google Scholar 

  9. Kline CN, Joseph NM, Grenert JP et al (2017) Targeted next-generation sequencing of pediatric neuro-oncology patients improves diagnosis, identifies pathogenic germline mutations, and directs targeted therapy. Neuro-Oncology 19:699–709

    PubMed  Google Scholar 

  10. Mackay A, Burford A, Carvalho D et al (2017) Integrated molecular meta-analysis of 1,000 pediatric high-grade and diffuse intrinsic pontine glioma. Cancer Cell 32:520–537

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  11. Paugh BS, Zhu X, Qu C et al (2013) Novel oncogenic PDGFRA mutations in pediatric high-grade gliomas. Cancer Res 73:6219–6229

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  12. Pekmezci M, Stevers M, Phillips JJ et al (2018) Multinodular and vacuolating neuronal tumor of the cerebrum is a clonal neoplasm defined by genetic alterations that activate the MAP kinase signaling pathway. Acta Neuropathol 135:485–488

    Article  PubMed  Google Scholar 

  13. Pekmezci M, Villanueva-Meyer JE, Goode B et al (2018) The genetic landscape of ganglioglioma. Acta Neuropathol Commun 6:47

    Article  PubMed  PubMed Central  Google Scholar 

  14. Qaddoumi I, Orisme W, Wen J et al (2016) Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology. Acta Neuropathol 131:833–845

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  15. Rivera B, Gayden T, Carrot-Zhang J et al (2016) Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathol 131:847–863

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  16. Xiong J, Liu Y, Chu SG et al (2012) Dysembryoplastic neuroepithelial tumor-like neoplasm of the septum pellucidum: review of 2 cases with chromosome 1p/19q and IDH1 analysis. Clin Neuropathol 31:31–38

    Article  PubMed  Google Scholar 

  17. Zhang J, Wu G, Miller CP et al (2013) Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nat Genet 45:602–612

    Article  PubMed  PubMed Central  CAS  Google Scholar 

Download references

Acknowledgements

D.A.S. is supported by NIH Director’s Early Independence Award (DP5 OD021403) and the UCSF Physician-Scientist Scholar Program. B.C.B. is supported by an NCI Outstanding Investigator Award (R35 CA220481).

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to David A. Solomon.

Ethics declarations

This study was approved by the Committee on Human Research of the University of California, San Francisco, with a waiver of patient consent.

Conflict of interest

The authors declare that they have no competing interests related to this study.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (XLSX 26 kb)

Supplementary material 2 (PDF 16038 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Solomon, D.A., Korshunov, A., Sill, M. et al. Myxoid glioneuronal tumor of the septum pellucidum and lateral ventricle is defined by a recurrent PDGFRA p.K385 mutation and DNT-like methylation profile. Acta Neuropathol 136, 339–343 (2018). https://doi.org/10.1007/s00401-018-1883-2

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00401-018-1883-2

Navigation