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

  • Julieann C. Lee
  • Tali Mazor
  • Richard Lao
  • Eunice Wan
  • Alpha B. Diallo
  • Nicholas S. Hill
  • Naina Thangaraj
  • Katherine Wendelsdorf
  • David Samuel
  • Cassie N. Kline
  • Anuradha Banerjee
  • Kurtis Auguste
  • Corey Raffel
  • Nalin Gupta
  • Mitchel Berger
  • David R. Raleigh
  • Anny Shai
  • Joanna J. Phillips
  • Andrew W. Bollen
  • Tarik Tihan
  • Arie Perry
  • Joseph Costello
  • David A. SolomonEmail author
Correspondence

The pineal body is a small endocrine gland in the midline of the brain that secretes melatonin to modulate circadian rhythms. A group of primary tumors which arise from the pineal gland termed pineal parenchymal tumors are classified as pineocytoma (grade I), pineal parenchymal tumor of intermediate differentiation (PPTID; grade II or III), or pineoblastoma (grade IV). Most pineoblastomas arise in children, whereas pineocytomas and PPTIDs typically occur later in life. Pineocytomas are associated with favorable prognosis, with 5-year survival exceeding 90% following gross total resection. In contrast, pineoblastomas are embryonal tumors with a propensity for cerebrospinal dissemination and poor outcome despite resection, craniospinal radiation, and systemic chemotherapy [3]. PPTIDs are morphologically heterogeneous with intermediate histologic features and variable clinical outcomes [3, 5]. Recently, pineoblastomas were identified to harbor frequent mutations of the DICER1gene or...

Notes

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.

Compliance with ethical standards

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.

Supplementary material

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Supplementary material 1 (PDF 16505 kb)
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Supplementary material 2 (XLSX 28 kb)

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Julieann C. Lee
    • 1
  • Tali Mazor
    • 2
    • 8
  • Richard Lao
    • 3
  • Eunice Wan
    • 3
  • Alpha B. Diallo
    • 4
  • Nicholas S. Hill
    • 4
  • Naina Thangaraj
    • 4
  • Katherine Wendelsdorf
    • 4
  • David Samuel
    • 5
  • Cassie N. Kline
    • 6
  • Anuradha Banerjee
    • 6
  • Kurtis Auguste
    • 2
  • Corey Raffel
    • 2
  • Nalin Gupta
    • 2
  • Mitchel Berger
    • 2
  • David R. Raleigh
    • 2
    • 7
  • Anny Shai
    • 2
  • Joanna J. Phillips
    • 1
    • 2
  • Andrew W. Bollen
    • 1
  • Tarik Tihan
    • 1
  • Arie Perry
    • 1
    • 2
  • Joseph Costello
    • 2
  • David A. Solomon
    • 1
    Email author
  1. 1.Division of Neuropathology, Department of PathologyUniversity of CaliforniaSan FranciscoUSA
  2. 2.Department of Neurological SurgeryUniversity of CaliforniaSan FranciscoUSA
  3. 3.Institute for Human GeneticsUniversity of CaliforniaSan FranciscoUSA
  4. 4.DNAnexus Inc., xVantage GroupMountain ViewUSA
  5. 5.Department of Hematology/OncologyValley Children’s HospitalMaderaUSA
  6. 6.Division of Pediatric Hematology/Oncology, Department of PediatricsUniversity of CaliforniaSan FranciscoUSA
  7. 7.Department of Radiation OncologyUniversity of CaliforniaSan FranciscoUSA
  8. 8.Knowledge Systems GroupDana Farber Cancer InstituteBostonUSA

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