A primary extradural malignant rhabdoid tumor at the craniovertebral junction in a 3-year-old boy
- 396 Downloads
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).
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.
KeywordsExtradural 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.
- 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.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
- 7.Horazdovsky R, Manivel JC, Cheng EY (2013) Surgery and actinomycin improve survival in malignant rhabdoid tumor. Sarcoma 2013:315170Google Scholar