Skip to main content
SpringerLink
Log in

A primary extradural malignant rhabdoid tumor at the craniovertebral junction in a 3-year-old boy

  • Case Report
  • Published:
Child's Nervous System Aims and scope Submit manuscript

Abstract

Introduction

Malignant rhabdoid tumor (MRT) is a highly aggressive childhood neoplasm and mainly presents in kidney and brain. We report the case of a patient with extrarenal extracranial MRT in the craniovertebral junction (CVJ).

Case report

A 3-year-old boy presented with tetraparesis that had rapidly developed for 2 weeks. The tumor was located in the ventral side of the C1 and C2 extradural space and had invaded the lower clivus. The symptom recovered after subtotal resection of the tumor through a lateral approach with removal of bilateral lateral masses at C1 and instrumental occipital-C2 posterior fusion. Definite histological diagnosis of the extradural tumor was difficult; however, a metastatic lesion in the rib showed a proliferation of INI1/SMARCB1-negative spindle and rhabdoid cells, indicating the tumor was MRT. Stereotactic CyberKnife radiotherapy with a marginal dose of 26 Gy contributed to control of local regrowth of the tumor before histopathological confirmation and induction of chemotherapy with ifosfamide, cisplatin, and etoposide. The patient survived for 29 months without local recurrence of the tumor and with independent activity, however then died of multiple metastases.

Conclusion

Treatment strategies for MRT in the CVJ should include an optimal surgical approach for reduction of tumor volume and stabilization of the spine, followed by high dose chemotherapy. Stereotactic radiotherapy may be useful for local control.

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

Figure 1
Figure 2
Figure 3

Similar content being viewed by others

References

  1. Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the first National Wilms’ Tumor Study. Cancer 41:1937–1948

    Article  CAS  Google Scholar 

  2. Biegel JA (2006) Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 20:E11

    Article  Google Scholar 

  3. Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB (2002) Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clinical cancer research : an official journal of the American Association for Cancer Research 8:3461–3467

    CAS  Google Scholar 

  4. Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79

    CAS  Google Scholar 

  5. Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, Pridjian G, Tan L, Judkins AR, Biegel JA (2006) Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 47:279–284

    Article  Google Scholar 

  6. Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206

    Article  CAS  Google Scholar 

  7. Horazdovsky R, Manivel JC, Cheng EY (2013) Surgery and actinomycin improve survival in malignant rhabdoid tumor. Sarcoma 2013:315170

  8. Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65

    Article  CAS  Google Scholar 

  9. Robbens C, Vanwyck R, Wilms G, Sciot R, Debiec-Rychter M (2007) An extrarenal rhabdoid tumor of the cervical spine with bony involvement. Skelet Radiol 36:341–345

    Article  CAS  Google Scholar 

  10. Xin X, Zhu B, Shen J, Tian C, Fan X, Liu BR (2014) A primary spinal extradural atypical teratoid/rhabdoid tumor of the cervical spine with bony involvement. J Child Neurol 29:670–673

    Article  Google Scholar 

  11. Margol AS, Judkins AR (2014) Pathology and diagnosis of SMARCB1-deficient tumors. Cancer genetics 207:358–364

    Article  CAS  Google Scholar 

  12. Dobbs MD, Correa H, Schwartz HS, Kan JH (2011) Extrarenal rhabdoid tumor mimicking a sacral peripheral nerve sheath tumor. Skelet Radiol 40:1363–1368

    Article  Google Scholar 

  13. Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir 39:510–517 discussion 517-518

    Article  CAS  Google Scholar 

  14. Wills BP, Auerbach JD, Glotzbecker MP, Drummond DS, Dormans JP (2006) Change in lordosis at the occipitocervical junction following posterior occipitocervical fusion in skeletally immature children. Spine 31:2304–2309

    Article  Google Scholar 

Download references

Acknowledgements

We thank Dr. Tatsuo Akimura (Saint Hill Hospital), Professor Hideaki Iizuka (Kanazawa Medical University), Dr. Hisaharu Goto (Yamaguchi University Hospital), Dr. Kenichi Saito (Konan Saint Hill Hospital), and Professor Takashi Tamiya (Kagawa University) for assisting with surgery and irradiation with CyberKnife® and for much helpful advice in the course of treatment.

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Yamaguchi University School of Medicine, 1-1-1, Minamikogushi, Ube, Yamaguchi, 755-8505, Japan

    Takuma Nishimoto, Sadahiro Nomura & Michiyasu Suzuki

  2. Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Japan

    Reiji Fukano

  3. Department of Pathology, Yamaguchi University Graduate School of Medicine, Ube, Japan

    Tokuhiro Kimura & Eiji Ikeda

Authors
  1. Takuma Nishimoto
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Sadahiro Nomura
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Reiji Fukano
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Tokuhiro Kimura
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Eiji Ikeda
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Michiyasu Suzuki
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Takuma Nishimoto.

Ethics declarations

Conflict of interest

The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

Electronic supplementary material

ESM 1

(DOCX 67 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Nishimoto, T., Nomura, S., Fukano, R. et al. A primary extradural malignant rhabdoid tumor at the craniovertebral junction in a 3-year-old boy. Childs Nerv Syst 34, 367–371 (2018). https://doi.org/10.1007/s00381-017-3631-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00381-017-3631-7

Keywords

Search

Navigation