Journal of Pediatric Neurosciences
CASE REPORT
Year
: 2016  |  Volume : 11  |  Issue : 2  |  Page : 121--124

A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child


Dipanker Singh Mankotia1, Vivek Tandon1, Bhawani Shankar Sharma1, Madhu Rajeshwari2, Mehar Chand Sharma2,  
1 Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi, India
2 Department of Neuropathology, All India Institute of Medical Sciences, New Delhi, India

Correspondence Address:
Vivek Tandon
Department of Neurosurgery, All India Institute of Medical Sciences, New Delhi
India

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system neoplasm affecting children, and isolated primary spinal involvement is extremely rare. Authors describe a case of spinal AT/RT in a 5-year-old male child presenting with rapidly progressing quadriparesis diagnosed and managed surgically and medically. Biopsy revealed large, rhabdoid cells with prominent nucleoli in nest and immunohistochemistry further showed loss of integrase integrator 1 expression considered to be gold standard for diagnosis. AT/RT has extremely poor prognosis with median survival being 6 months.



How to cite this article:
Mankotia DS, Tandon V, Sharma BS, Rajeshwari M, Sharma MC. A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child.J Pediatr Neurosci 2016;11:121-124


How to cite this URL:
Mankotia DS, Tandon V, Sharma BS, Rajeshwari M, Sharma MC. A case of primary spinal atypical teratoid/rhabdoid tumor in a 5-year-old child. J Pediatr Neurosci [serial online] 2016 [cited 2019 Dec 16 ];11:121-124
Available from: http://www.pediatricneurosciences.com/text.asp?2016/11/2/121/187634


Full Text

 Introduction



Atypical teratoid/rhabdoid tumor (AT/RT) is a rare tumor of the central nervous system (CNS) which usually affects children under 3 years of age. [1],[2],[3],[4],[5] These tumors are termed AT/RT as they contain sheets of RT cells, primitive neuroectodermal tumor (PNET) cells, and mesenchymal spindle-shaped tumor cells. [6],[7],[8],[9] The most common site of involvement is the posterior fossa, and primary isolated extracranial primary spinal involvement is an extremely rare presentation. [3],[7],[10],[11] AT/RT is a highly malignant, aggressive tumor with median survival being 6 months even with optimum surgical and medical treatment. [4],[5],[12] Authors report a case of primary spinal AT/RT in a 5-year-old male child and discuss the pathological characteristics, treatment options, prognosis, and a comprehensive review of literature of this very rare tumor.

 Case Report



A 5-year-old previously healthy male child presented to pediatric emergency with symptoms of rapidly progressing ascending quadriparesis since last 1 week with severe respiratory distress. The patient was intubated and required ventilator support. Power in left upper limb was 2/5 while in other limbs was 0/5. He had complete sensory loss below the level of nipples. Features of myelopathy were present.

Neuroimaging

Magnetic resonance imaging (MRI) of the spine revealed an oblong inferiorly tapering T1 and T2 heterogeneous signal intensity intradural extramedullary lesion in the dorsal spinal canal extending from D5 to D10 level with mass effect on the cord. T2-weighted images showed hypointense rim suggestive of hemosiderin deposit. On contrast administration, mild peripheral enhancement of the lesion was noticed. T2 hyperintensity was seen in the spinal cord extending from pontomedullary junction up to D8 level suggestive of associated syrinx. Cranial MRI revealed no abnormality. Detailed metastatic work up was done and chest and abdomen imaging did not reveal any lesion. Considering the rapidly progressing quadriparesis and age of the patient, a working diagnosis of AT/RT or spinal PNET was made [Figure 1] and [Figure 2].{Figure 1}{Figure 2}

Surgical intervention

The patient was taken for emergency surgery under general anesthesia. A D4-D10 laminoplasty with tumor decompression was performed. Intraoperatively, after opening the dura, an ill-defined yellowish, friable intradural dorsal exophytic tumor tissue with areas of hemorrhage indistinguishable from underlying necrotic cord was identified [Figure 3]. Tumor was highly vascular and had areas of necrosis. Tumor was infiltrating the normal cord and no plane of cleavage was present; therefore, only subtotal decompression could be achieved. Frozen section and operative findings were suggestive of highly malignant spine tumor, and differentials of spinal PNET and AT/RT were considered. He was discharged after being weaned off from the ventilator. After the surgery, motor power improved from 0/5 to 2/5 in the lower limbs. The child is receiving adjuvant chemotherapy 1 month after surgery at last follow-up visit.{Figure 3}

Neuropathology

Histopathological examination showed a tumor composed of sheets of rhabdoid cells along with large areas of necrosis. Tumor cells had moderate to abundant cytoplasm with eccentrically placed nucleus, vesicular chromatin, and prominent nucleolus, which were immunopositive diffusely for vimentin and focally for cytokeratin and epithelial membrane antigen, while negative for glial fibrillary acid protein, desmin, myogenin, and smooth muscle actin. Immunohistochemistry further revealed loss of integrase integrator 1 (INI1) immunoexpression. Brisk mitotic activity was noted with an MIB labeling index of 30%. A final diagnosis of AT/RT was rendered [Figure 4].{Figure 4}

 Discussion



AT/RT was first described by Rorke et al. and now classified as World Health Organization grade (IV) tumors. [8] These are rare tumors of infancy and usually affect children under 3 years of age. [4],[11],[13],[14],[15],[16] Mean age at presentation is usually 2 years of life according to Hilden et al. [13] The most common site of CNS AT/RT is the posterior fossa, and primary isolated spinal involvement is extremely rare and till date, only 14 pediatric cases have been reported in world literature [Table 1].{Table 1}

These are rare cases and can be misdiagnosed as spinal PNET. [7],[9],[14] Differentiation between PNET and AT/RT is important as PNET has a better prognosis. [2],[7],[17],[18] It is almost impossible to differentiate PNET from AT/RT radiologically. [9],[10],[11],[19] AT/RT histologically shows large, rhabdoid cells with prominent nucleoli in nest whereas PNET shows small, blue cells. [9],[14] The presence of necrosis, fibrovascular septae, dystrophic calcification, and epithelial differentiation is usually seen in AT/RT. [9],[14]

Differentials on basis of radiology are spinal tuberculosis with arachnoiditis, PNET, Infection and high-grade glioma. Neuroradiological findings are not specific, and diagnosis of AT/RT requires biopsy and immunohistochemistry. [14],[17],[20] Mutation of hSNF5/INI1 gene also known as SMARCB1 located on chromosome 22q11 is considered to be hallmark of AT/RT. [17],[18] INI1, a tumor suppressor gene located on 22q11.2, is responsible for the pathogenesis of both cranial and spinal AT/RT. Loss of INI1 expression as observed in our case is now considered the gold standard for establishing the diagnosis of AT/RT. [17],[18],[20]

Overall prognosis of both cranial and spinal AT/RT is extremely poor and only 15% patients survive beyond 2 years. [3],[5],[6],[7],[12] According to Biegel et al., absence of INI1 immune expression as seen in our case is associated with even poorer prognosis. [17],[20]

The main aim of the surgery is to decrease tumor burden, remove spinal compression, and provide pathological diagnosis. According to previously published reports, response to treatment is poor even with adjuvant chemotherapy and radiotherapy. [1],[3],[5],[7],[12]

 Conclusion



The diagnosis of spinal AT/RT should always be considered in pediatric patient with rapidly worsening symptoms and atypical radiological findings. Authors recommend early surgery and institution of adjuvant chemotherapy for this aggressive spinal tumor.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Bannykh S, Duncan C, Ogle E, Baehring JM. Atypical teratoid/rhabdoid tumor of the spinal canal. J Neurooncol 2006;76:129-30.
2Fridley JS, Chamoun RB, Whitehead WE, Curry DJ, Luerssen TG, Adesina A, et al. Malignant rhabdoid tumor of the spine in an infant: Case report and review of the literature. Pediatr Neurosurg 2009;45:237-43.
3Moeller KK, Coventry S, Jernigan S, Moriarty TM. Atypical teratoid/rhabdoid tumor of the spine. AJNR Am J Neuroradiol 2007;28:593-5.
4Tamiya T, Nakashima H, Ono Y, Kawada S, Hamazaki S, Furuta T, et al. Spinal atypical teratoid/rhabdoid tumor in an infant. Pediatr Neurosurg 2000;32:145-9.
5Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, et al. Atypical teratoid/rhabdoid tumor of the spine in an adult: Case report and review of the literature. J Neurooncol 2007;84:49-55.
6Yang CS, Jan YJ, Wang J, Shen CC, Chen CC, Chen M. Spinal atypical teratoid/rhabdoid tumor in a 7-year-old boy. Neuropathology 2007;27:139-44.
7Rosemberg S, Menezes Y, Sousa MR, Plese P, Ciquini O. Primary malignant rhabdoid tumor of the spinal dura. Clin Neuropathol 1994;13:221-4.
8Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: Definition of an entity. J Neurosurg 1996;85:56-65.
9Howlett DC, King AP, Jarosz JM, Stewart RA, al-Sarraj ST, Bingham JB, et al. Imaging and pathological features of primary malignant rhabdoid tumours of the brain and spine. Neuroradiology 1997;39:719-23.
10Cheng YC, Lirng JF, Chang FC, Guo WY, Teng MM, Chang CY, et al. Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. Acta Radiol 2005;46:89-96.
11Kodama H, Maeda M, Imai H, Matsubara T, Taki W, Takeda K. MRI of primary spinal atypical teratoid/rhabdoid tumor: A case report and literature review. J Neurooncol 2007;84:213-6.
12Yano S, Hida K, Kobayashi H, Iwasaki Y. Successful multimodal therapies for a primary atypical teratoid/rhabdoid tumor in the cervical spine. Pediatr Neurosurg 2008;44:406-13.
13Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, et al. Central nervous system atypical teratoid/rhabdoid tumor: Results of therapy in children enrolled in a registry. J Clin Oncol 2004;22:2877-84.
14Seno T, Kawaguchi T, Yamahara T, Sakurai Y, Oishi T, Inagaki T, et al. An immunohistochemical and electron microscopic study of atypical teratoid/rhabdoid tumor. Brain Tumor Pathol 2008;25:79-83.
15Tanizaki Y, Oka H, Utsuki S, Shimizu S, Suzuki S, Fujii K. Atypical teratoid/rhabdoid tumor arising from the spinal cord - Case report and review of the literature. Clin Neuropathol 2006;25:81-5.
16Tinsa F, Jallouli M, Douira W, Boubaker A, Kchir N, Hassine DB, et al. Atypical teratoid/rhabdoid tumor of the spine in a 4-year-old girl. J Child Neurol 2008;23:1439-42.
17Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB. Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extrarenal rhabdoid tumors. Clin Cancer Res 2002;8:3461-7.
18Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A. Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol 2005;15:23-8.
19Niwa T, Aida N, Tanaka M, Okubo J, Sasano M, Shishikura A, et al. Diffusion-weighted imaging of an atypical teratoid/rhabdoid tumor of the cervical spine. Magn Reson Med Sci 2009;8:135-8.
20Biegel JA. Molecular genetics of atypical teratoid/rhabdoid tumor. Neurosurg Focus 2006;20:E11.