Child's Nervous System

, Volume 34, Issue 2, pp 367–371 | Cite as

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

  • Takuma NishimotoEmail author
  • Sadahiro Nomura
  • Reiji Fukano
  • Tokuhiro Kimura
  • Eiji Ikeda
  • Michiyasu Suzuki
Case Report



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.


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.


Extradural tumor Posterior fusion INI1/SMARCB1/BAF47 Pediatrics 



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.

Compliance with ethical standards

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.

Supplementary material

381_2017_3631_MOESM1_ESM.docx (67 kb)
ESM 1 (DOCX 67 kb)


  1. 1.
    Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the first National Wilms’ Tumor Study. Cancer 41:1937–1948CrossRefGoogle Scholar
  2. 2.
    Biegel JA (2006) Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 20:E11CrossRefGoogle Scholar
  3. 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 8:3461–3467Google Scholar
  4. 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 59:74–79Google Scholar
  5. 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 47:279–284CrossRefGoogle Scholar
  6. 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 394:203–206CrossRefGoogle Scholar
  7. 7.
    Horazdovsky R, Manivel JC, Cheng EY (2013) Surgery and actinomycin improve survival in malignant rhabdoid tumor. Sarcoma 2013:315170Google Scholar
  8. 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 85:56–65CrossRefGoogle Scholar
  9. 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 36:341–345CrossRefGoogle Scholar
  10. 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 29:670–673CrossRefGoogle Scholar
  11. 11.
    Margol AS, Judkins AR (2014) Pathology and diagnosis of SMARCB1-deficient tumors. Cancer genetics 207:358–364CrossRefGoogle Scholar
  12. 12.
    Dobbs MD, Correa H, Schwartz HS, Kan JH (2011) Extrarenal rhabdoid tumor mimicking a sacral peripheral nerve sheath tumor. Skelet Radiol 40:1363–1368CrossRefGoogle Scholar
  13. 13.
    Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir 39:510–517 discussion 517-518CrossRefGoogle Scholar
  14. 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 31:2304–2309CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  1. 1.Department of NeurosurgeryYamaguchi University School of MedicineYamaguchiJapan
  2. 2.Department of PediatricsYamaguchi University Graduate School of MedicineUbeJapan
  3. 3.Department of PathologyYamaguchi University Graduate School of MedicineUbeJapan

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