Skip to main content
Log in

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

  • 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

References

  1. Bruggers CS, Bleyl SB, Pysher T et al (2011) Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer 56:1026–1031

    Article  PubMed Central  PubMed  Google Scholar 

  2. Dykhuizen EC, Hargreaves DC, Miller EL et al (2013) BAF complexes facilitate decatenation of DNA by topoisomerase IIalpha. Nature 497:624–627

    Article  CAS  PubMed  Google Scholar 

  3. Eaton KW, Tooke LS, Wainwright LM et al (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56:7–15

    Article  PubMed Central  PubMed  Google Scholar 

  4. Frühwald MC, Hasselblatt M, Wirth S et al (2006) Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer 47:273–278

    Article  PubMed  Google Scholar 

  5. Hasselblatt M, Gesk S, Oyen F et al (2011) Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 35:933–935

    Article  PubMed  Google Scholar 

  6. Jackson EM, Sievert AJ, Gai X et al (2009) Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res 15:1923–1930

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  7. Jelinic P, Mueller JJ, Olvera N et al (2014) Recurrent SMARCA4 mutations in small cell carcinoma of the ovary. Nat Genet 46:424–426

    Article  CAS  PubMed  Google Scholar 

  8. Jones DT, Jäger N, Kool M et al (2012) Dissecting the genomic complexity underlying medulloblastoma. Nature 488:100–105

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  9. Judkins AR, Mauger J, Ht A et al (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650

    Article  PubMed  Google Scholar 

  10. Kordes U, Gesk S, Frühwald MC et al (2010) Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer 49:176–181

    CAS  PubMed  Google Scholar 

  11. Pugh TJ, Weeraratne SD, Archer TC et al (2012) Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 488:106–110

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Ramos P, Karnezis AN, Craig DW et al (2014) Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4. Nat Genet 46:427–429

    Article  CAS  PubMed  Google Scholar 

  13. Robinson G, Parker M, Kranenburg TA et al (2012) Novel mutations target distinct subgroups of medulloblastoma. Nature 488:43–48

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Schneppenheim R, Frühwald MC, Gesk S et al (2010) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86:279–284

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  15. Tsurusaki Y, Okamoto N, Ohashi H et al (2012) Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet 44:376–378

    Article  CAS  PubMed  Google Scholar 

  16. Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11:481–492

    Article  CAS  PubMed  Google Scholar 

  17. Witkowski L, Carrot-Zhang J, Albrecht S et al (2014) Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet 46:438–443

    Article  CAS  PubMed  Google Scholar 

  18. Witkowski L, Lalonde E, Zhang J et al (2013) Familial rhabdoid tumour ‘avant la lettre’–from pathology review to exome sequencing and back again. J Pathol 231:35–43

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgments

This work was supported by IZKF Münster (HA3/016/11); KinderKrebsInitiative Buchholz/Holm-Seppensen; and Fördergemeinschaft Kinderkrebszentrum Hamburg. EU-RHAB is supported by Deutsche Kinderkrebsstiftung; Gesellschaft für Kinderkrebsforschung Geltendorf; and “Horizont” Kinderkrebshilfe Weseke.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Martin Hasselblatt.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Supplementary material 1 (PPT 22748 kb)

Supplementary material 2 (PPT 1147 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Hasselblatt, M., Nagel, I., Oyen, F. et al. SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis. Acta Neuropathol 128, 453–456 (2014). https://doi.org/10.1007/s00401-014-1323-x

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00401-014-1323-x

Keywords

Navigation