|Ahead of print
Atypical teratoid/rhabdoid tumor of the lateral ventricle presenting with metastasis: A case report
Gopalakrishnan C Viswanathan1, Akhil Mohan1, Sourav Chowdhury1, Dilip Panikar2, Biji K Aravind2
1 Department of Neurosurgery, Kochi, Kerala, India
2 Department of Pathology, Aster Medcity, Kochi, Kerala, India
|Date of Submission||10-Oct-2021|
|Date of Acceptance||26-Dec-2021|
|Date of Web Publication||30-Jan-2023|
Department of Neurosurgery, Aster Medcity, Cheranalloor, Kochi 682027, Kerala
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Atypical teratoid/rhabdoid tumor (AT/RT) is a biologically aggressive tumor of the central nervous system, usually occurring in the posterior fossa in infants and young children. Supratentorial location is relatively rare, especially tumors arising primarily within the lateral ventricles. Prognosis remains poor, despite multiple treatment modalities consisting of surgical excision, radiotherapy, and chemotherapy. We present the case of a 3-year-old girl with an AT/RT of the lateral ventricle with diffuse leptomeningeal and spinal metastasis on magnetic resonance imaging. She underwent a left frontoparietal craniotomy and near-total excision of the tumor. Immunohistochemistry confirmed the diagnosis and the child died within 3 months of surgery. There are isolated case reports in the literature regarding primary lateral ventricular AT/RTs, although secondary involvement of the ventricle from an adjacent tumor is commoner. Ours is the first case that demonstrates AT/RT arising within the body of the lateral ventricle causing extensive metastasis, both within the brain and spine. Given the dismal prognosis, the choice between further adjuvant treatment and palliative care is a matter of debate that necessitates a truthful and meaningful discussion with the parents.
Keywords: Atypical teratoid/rhabdoid tumor, histopathology, lateral ventricle, pediatric brain tumors
The malignant rhabdoid tumor was originally described as a renal neoplasm in infants and young children. Rorke et al. defined it as a biologically unique central nervous system neoplasm and named it atypical teratoid/rhabdoid tumor (AT/RT). AT/RTs of the central nervous system are high-grade malignant neoplasms comprising 3% of pediatric brain tumors mostly affecting children below the age of 2 years. AT/RTs are most frequently located in the posterior fossa. Primary involvement of the lateral ventricle is extremely rare.
We report a case of AT/RT arising from the lateral ventricle with evidence of diffuse leptomeningeal and spinal dissemination. This is the first report of cerebrospinal fluid (CSF) seedling in the spinal subarachnoid space from an intraventricular AT/RT. A review of isolated case reports in literature surprisingly does not document CSF dissemination at the time of initial presentation.
| Clinical Presentation|| |
A 3-year-old girl presented with occipital headache and repeated vomiting for 2 weeks. On examination, the child was fully conscious but lethargic; pupils were equal and reactive to light. She had bilateral papilledema with no other cranial nerve involvement. A magnetic resonance imaging (MRI) brain showed a heterogeneous lesion involving the body of the left lateral ventricle with extension into the ipsilateral foramen of Monro and the anterior third ventricle obstructing the CSF pathway [Figure 1]. The tumor also showed involvement of the adjoining ependymal lining of the ventricle. It had a heterogeneous enhancement on gadolinium injection with areas of blooming within, possibly indicating hemorrhage. Evidence of multiple subependymal-enhancing nodular foci along the left lateral ventricular wall notably in the frontal horn and trigone was noted. Diffuse continuous leptomeningeal enhancement in the basal cisterns, along the pial surface of the brainstem and cerebellar folia, was seen. Multiple extramedullary intradural leptomeningeal lesions were noted in the cervical and thoracic spinal levels and in the terminal thecal sac. In view of raised intracranial pressure, the child underwent a left frontoparietal craniotomy, superior frontal sulcus approach, and near-total excision of the tumor. A CSF Ommaya reservoir was placed in the ventricle for tapping CSF in the event of a suspected increase in increased intracranial pressure. Post-operatively, the child had an uneventful recovery.
|Figure 1: Coronal T2-weighted MRI showing an iso- to hyper-intense lesion in the body of lateral ventricle (A); axial T1-weighted MRI with gadolinium (B, C) displays enhancing lesion with diffuse leptomeningeal enhancement on the surface of the brainstem with associated nodular deposits in the pontomedullary cisterns and cerebellar folia; axial diffusion-weighted image with corresponding restricted diffusion (D); (E) sagittal contrast MRI of the lower spine showing multiple extramedullary intradural metastatic leptomeningeal lesions|
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On histopathology [Figure 2], the neoplasm showed diffusely arranged cells with extensive areas of necrosis. The cells showed abundant dense eosinophilic, finely granular cytoplasm, and eccentric nuclei with central nucleoli. Brisk mitoses were seen. On immunohistochemistry (IHC), cells were positive for epithelial membrane antigen (EMA), smooth muscle antigen (SMA), and vimentin and showed loss of expression of SMARCB1 protein (INI1), thus confirming a diagnosis of AT/RT. The parents were informed regarding the poor prognosis and the need for craniospinal radiation, but they opted for no further adjuvant treatment.
|Figure 2: Atypical teratoid rhabdoid tumor. (A) Sections showing tumor with extensive areas of necrosis (H&E ×40); (B) cells with abundant eosinophilic cytoplasm and eccentric nuclei (H&E ×400); (C) neoplastic cells showing loss of expression of INI1 (internal positive control of lymphocytes); (D) neoplastic cells positive for SMA (×400)|
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One month after surgery, the child presented with decreased response to external stimuli. Computed tomography (CT) brain showed hydrocephalus with periventricular lucency. Since her clinical status improved after aspiration of CSF from the reservoir, a ventriculoperitoneal shunt was inserted after removing the Ommaya. There was a gradual progressive decline in the clinical condition of the child at home, and parents accepted the inevitable. The child died 2 months later.
| Discussion|| |
AT/RT is a highly aggressive tumor of embryonic origin, comprising approximately 3% of pediatric brain tumors and 20% of embryonal tumors. The mean age at presentation is 2 years with 2.7:1 male predominance. The majority of these tumors arise in the cerebellum. Though it may involve any part of the CNS, supratentorial tumors are commonly located either in the cerebral cortex, the suprasellar area, and the pineal region. Isolated intraventricular origin of these tumors is rare, although secondary infiltration of the ventricles from adjoining locations can occur. To the best of our knowledge, only five pediatric cases of lateral ventricular AT/RTs [Table 1] have been described in the literature.,,,, AT/RTs tend for subarachnoid dissemination along the Virchow–Robin spaces, but diffuse spinal dissemination from an intraventricular tumor has not been previously reported.
The clinical presentation depends on the location of the tumor and the presence of hydrocephalus. Overall, patients with AT/RT present with a short clinical history, ranging from days to weeks. Symptoms of raised intracranial tension such as headache, vomiting, lethargy, and failure to thrive are common. Cerebellar involvement may result in gait imbalance. Cranial nerve palsies have also been reported, especially when the tumor involves the cerebellopontine angle.
MRI is essential for pre-operative diagnosis. At the time of presentation, these tumors usually have attained a large size and produce pressure effects on the adjacent parenchyma. They are polymorphic having solid and cystic areas with evidence of hemorrhage and necrosis. Cystic component and calcification were discerned in about 73.3% and 40% of these tumors, respectively, in a series by Biswas et al. Marked enhancement on gadolinium injection is seen with peritumoral edema. Magnetic resonance spectroscopy of AT/RT typically shows elevated levels of choline and decreased Nacetyl aspartate. They closely resemble primitive neuroectodermal tumors, location off-midline, and presence of calcification point toward a diagnosis of AT/RT.
The histological hallmark of AT/RT is the rhabdoid cells which are described as large, pale cells with oval, polygonal, or elongated nuclei and eosinophilic or pale cytoplasm. The nuclei show an open chromatin pattern and small to moderately prominent nucleolus. IHC studies are positive for three antibodies whose epitopes are almost always expressed: EMA, vimentin, and SMA. Currently, the most definitive diagnosis of AT/RTs is made by demonstrating the inactivation or deletion of the INI1 (hSNF5/SMARCB1) gene located in the chromosome band 22q11.2 and loss of expression in tumor cell nuclei through IHC or fluorescence in situ hybridization.
Multimodality therapy as for any malignant brain tumor in the form of gross total resection followed by irradiation and adjuvant chemotherapy is essential for AT/RT. Total resection is technically difficult owing to tumor size, diffuse infiltration, and young age at diagnosis. However, degree of surgical resection appears to be one of the most important factors in predicting prognosis. In a Canadian retrospective study of 50 pediatric patients with CNS AT/RT, 30% underwent gross total resection of tumor and had better outcome compared with those in whom the excision was less than total. Although a variety of chemotherapeutic regimens may result in tumor stabilization and in some cases objective tumor shrinkage, long-term disease control still remains poor. Other important variables that affect prognosis include age and the inability to use full dose craniospinal irradiation. Unfortunately, rapid disease recurrence and progression have been seen even in children who receive the complete dose craniospinal irradiation. Overall prognosis is poor and median survival for AT/RT in infants is 6–10 months, but longterm survival is possible in some cases with aggressive adjuvant therapy.,
| Conclusion|| |
Despite multimodality treatment strategies, AT/RT remains an extremely malignant neoplasm of the CNS with a very high rate of morbidity and mortality. These tumors are extremely rare within the lateral ventricle, and the presence of CSF dissemination at the time of initial diagnosis has never been previously reported in the literature. It highlights the need for MRI of the spinal axis as a routine modality of investigation at the time of presentation. The presence of neuraxial spread invariably portends an extremely poor prognosis and the necessity to counsel parents accordingly on further treatment, giving importance to the quality of life than mere survival.
“Written informed consent was obtained from the patient’s parents for publication of this case report and any accompanying images.”
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Conflicts of interest
There are no conflicts of interest.
Conception and design: GCV;
Acquisition of data: all authors;
Drafting the article: GCV;
Critically revising the article: all authors.
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