Skip to main content
SpringerLink
Log in

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

  • 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

References

  1. Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500(7463):415–421. doi:10.1038/nature12477

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR (2008) Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet 74(4):358–366. doi:10.1111/j.1399-0004.2008.01060.x

    Article  CAS  PubMed  Google Scholar 

  3. Frattini V, Trifonov V, Chan JM et al (2013) The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet 45(10):1141–1149. doi:10.1038/ng.2734

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  4. Hadfield KD, Newman WG, Bowers NL et al (2008) Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet 45(6):332–339. doi:10.1136/jmg.2007.056499

    Article  CAS  PubMed  Google Scholar 

  5. Jacoby LB, Jones D, Davis K et al (1997) Molecular analysis of the NF2 tumor-suppressor gene in schwannomatosis. Am J Hum Genet 61(6):1293–1302. doi:10.1086/301633

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  6. Kaufman DL, Heinrich BS, Willett C et al (2003) Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol 60(9):1317–1320. doi:10.1001/archneur.60.9.1317

    Article  PubMed  Google Scholar 

  7. MacCollin M, Chiocca EA, Evans DG et al (2005) Diagnostic criteria for schwannomatosis. Neurology 64(11):1838–1845. doi:10.1212/01.WNL.0000163982.78900.AD

    Article  CAS  PubMed  Google Scholar 

  8. MacCollin M, Willett C, Heinrich B et al (2003) Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 60(12):1968–1974

    Article  CAS  PubMed  Google Scholar 

  9. Piotrowski A, Xie J, Liu YF et al (2013) Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nature Genet 46(2):182–187. doi:10.1038/ng.2855

    Article  PubMed  Google Scholar 

  10. Rousseau G, Noguchi T, Bourdon V, Sobol H, Olschwang S (2011) SMARCB1/INI1 germline mutations contribute to 10 % of sporadic schwannomatosis. BMC Neurol 11(1):9. doi:10.1186/1471-2377-11-9

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  11. Sestini R, Bacci C, Provenzano A, Genuardi M, Papi L (2008) Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat 29(2):227–231. doi:10.1002/humu.20679

    Article  CAS  PubMed  Google Scholar 

  12. Smith MJ, Wallace AJ, Bowers NL et al (2012) Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics 13(2):141–145. doi:10.1007/s10048-012-0319-8

    Article  CAS  PubMed  Google Scholar 

  13. Zhang K, Lin JW, Wang J et al (2014) A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis. Genet Med Off J Am Coll Med Genet. doi:10.1038/gim.2014.39

    Google Scholar 

Download references

Acknowledgments

For technical support and expertise we thank the High Throughput Sequencing and Microarray Units of the DKFZ Genomics and Proteomics Core Facility. This work was principally supported by the PedBrain Tumor Project contributing to the International Cancer Genome Consortium, funded by German Cancer Aid (DKH, #109252) and by the German Federal Ministry of Education and Research (BMBF, #01KU1201A, MedSys #0315416C and NGFNplus #01GS0883). Additional support came from the German Cancer Research Center—Heidelberg Center for Personalized Oncology (DKFZ-HIPO).

Author information

Authors and Affiliations

  1. Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Sonja Hutter, Stefan M. Pfister & David T. W. Jones

  2. Division of Molecular Genetics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Rosario M. Piro, Volker Hovestadt & Peter Lichter

  3. German Cancer Consortium (DKTK), 69120, Heidelberg, Germany

    Rosario M. Piro & Peter Lichter

  4. Department of Neuropathology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany

    David E. Reuss, Felix Sahm & Andreas von Deimling

  5. Department of Neurology, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246, Hamburg, Germany

    Said Farschtschi & Victor F. Mautner

  6. Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany

    Hildegard Kehrer-Sawatzki

  7. Genomics and Proteomics Core Facility, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Stephan Wolf

  8. Heidelberg Center for Personalized Oncology (DKFZ-HIPO), 69120, Heidelberg, Germany

    Peter Lichter

  9. Department of Neurosurgery, University Hospital Tübingen, Hoppe-Seyler-Strasse 3, 72076, Tübingen, Germany

    Martin U. Schuhmann

  10. Department of Pediatric Oncology, Haematology and Immunology, Heidelberg University Hospital, Im Neuenheimer Feld 224, 69120, Heidelberg, Germany

    Stefan M. Pfister

Authors
  1. Sonja Hutter
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rosario M. Piro
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. David E. Reuss
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Volker Hovestadt
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Felix Sahm
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Said Farschtschi
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Hildegard Kehrer-Sawatzki
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Stephan Wolf
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Peter Lichter
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Andreas von Deimling
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Martin U. Schuhmann
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Stefan M. Pfister
    View author publications

    You can also search for this author in PubMed Google Scholar

  13. David T. W. Jones
    View author publications

    You can also search for this author in PubMed Google Scholar

  14. Victor F. Mautner
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding authors

Correspondence to David T. W. Jones or Victor F. Mautner.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (DOCX 427 kb)

Supplementary material 2 (XLSX 13 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hutter, S., Piro, R.M., Reuss, D.E. et al. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol 128, 449–452 (2014). https://doi.org/10.1007/s00401-014-1311-1

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00401-014-1311-1

Keywords

Search

Navigation