Skip to main content
SpringerLink
Log in

Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma

  • 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

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Data availability

Scanned image files of the H&E-stained slides from the eight pineal parenchymal tumors from which representative images are presented are available for downloading and viewing at the following link: https://figshare.com/projects/Pineal_parenchymal_tumors/59621. Sequencing data files are available from the authors upon request.

References

  1. Canning P, Cooper CD, Krojer T, Murray JW, Pike AC, Chaikuad A et al (2013) Structural basis for Cul3 protein assembly with the BTB-Kelch family of E3 ubiquitin ligases. J Biol Chem 288:7803–7814

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S et al (2014) Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol 128:583–595

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Fauchon F, Jouvet A, Paquis P, Saint-Pierre G, Mottolese C, Ben Hassel M et al (2000) Parenchymal pineal tumors: a clinicopathological study of 76 cases. Int J Radiat Oncol Biol Phys 46:959–968

    Article  CAS  PubMed  Google Scholar 

  4. Northcott PA, Buchhalter I, Morrissy AS, Hovestadt V, Weischenfeldt J, Ehrenberger T et al (2017) The whole-genome landscape of medulloblastoma subtypes. Nature 547:311–317

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Raleigh DR, Solomon DA, Lloyd SA, Lazar A, Garcia MA, Sneed PK et al (2017) Histopathologic review of pineal parenchymal tumors identifies novel morphologic subtypes and prognostic factors for outcome. Neuro Oncol 19:78–88

    Article  CAS  PubMed  Google Scholar 

  6. Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD (2012) Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet 49:417–419

    Article  CAS  PubMed  Google Scholar 

  7. Snuderl M, Kannan K, Pfaff E, Wang S, Stafford JM, Serrano J et al (2018) Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma. Nat Commun 9:2868

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

This study was supported by the NIH Director’s Early Independence Award (DP5 OD021403) and a Career Development Award from the UCSF Brain Tumor SPORE grant (NIH P50 CA097257) to D.A.S. We thank the UCSF Brain Tumor Tissue Bank (supported by NIH P50 CA097257) for supplying key samples.

Author information

Author notes

  1. Tali Mazor

    Present address: Knowledge Systems Group, Dana Farber Cancer Institute, Boston, MA, USA

Authors and Affiliations

  1. Division of Neuropathology, Department of Pathology, University of California, San Francisco, CA, USA

    Julieann C. Lee, Joanna J. Phillips, Andrew W. Bollen, Tarik Tihan, Arie Perry & David A. Solomon

  2. Department of Neurological Surgery, University of California, San Francisco, CA, USA

    Tali Mazor, Kurtis Auguste, Corey Raffel, Nalin Gupta, Mitchel Berger, David R. Raleigh, Anny Shai, Joanna J. Phillips, Arie Perry & Joseph Costello

  3. Institute for Human Genetics, University of California, San Francisco, CA, USA

    Richard Lao & Eunice Wan

  4. DNAnexus Inc., xVantage Group, Mountain View, CA, USA

    Alpha B. Diallo, Nicholas S. Hill, Naina Thangaraj & Katherine Wendelsdorf

  5. Department of Hematology/Oncology, Valley Children’s Hospital, Madera, CA, USA

    David Samuel

  6. Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA, USA

    Cassie N. Kline & Anuradha Banerjee

  7. Department of Radiation Oncology, University of California, San Francisco, CA, USA

    David R. Raleigh

Authors
  1. Julieann C. Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tali Mazor
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Richard Lao
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Eunice Wan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Alpha B. Diallo
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Nicholas S. Hill
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Naina Thangaraj
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Katherine Wendelsdorf
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. David Samuel
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Cassie N. Kline
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Anuradha Banerjee
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Kurtis Auguste
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. Corey Raffel
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Nalin Gupta
    View author publications

    You can also search for this author in PubMed Google Scholar

  15. Mitchel Berger
    View author publications

    You can also search for this author in PubMed Google Scholar

  16. David R. Raleigh
    View author publications

    You can also search for this author in PubMed Google Scholar

  17. Anny Shai
    View author publications

    You can also search for this author in PubMed Google Scholar

  18. Joanna J. Phillips
    View author publications

    You can also search for this author in PubMed Google Scholar

  19. Andrew W. Bollen
    View author publications

    You can also search for this author in PubMed Google Scholar

  20. Tarik Tihan
    View author publications

    You can also search for this author in PubMed Google Scholar

  21. Arie Perry
    View author publications

    You can also search for this author in PubMed Google Scholar

  22. Joseph Costello
    View author publications

    You can also search for this author in PubMed Google Scholar

  23. David A. Solomon
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to David A. Solomon.

Ethics declarations

Conflict of interest

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

Ethical approval

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

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PDF 16505 kb)

Supplementary material 2 (XLSX 28 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Lee, J.C., Mazor, T., Lao, R. et al. Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol 137, 851–854 (2019). https://doi.org/10.1007/s00401-019-01990-5

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00401-019-01990-5

Search

Navigation