Supratentorial ependymomas in children: Analysis of nine cases.

BACKGROUND: Intracranial ependymomas are the third most common primary brain tumor in children. In the present study, we set out to investigate the expression of p-53, p-27, bcl-2, epidermal growth factor receptor (EGFR) and of neuronal markers in pediatric supratentorial ependymomas, in correlation with Ki-67/MIB-1 proliferation index and prognosis. MATERIALS AND METHODS: Nine children with supratentorial ependymomas that were treated surgically in our institute over the last seven years were identified and included in the study. The extent of resection was classified as gross total and subtotal, and was determined by MRI scans. The ependymal tumors were classified according to WHO classification. RESULTS: Headache and seizures were the most common presenting symptoms and papilledema the most common sign. In seven cases, gross total excision was performed, and in two cases, the resection was subtotal. All ependymomas were anaplastic. Ki-67/MIB-1 was detected in 20-40% of the nuclei in all tumors. There was also increased expression of p-53, bcl-2, p-27, and EGFR. There was expression of neuronal markers in three cases. After a mean follow-up period of 32.1 months (range 16-74 months), eight children were alive. Five children suffered from tumor recurrence. CONCLUSIONS: Complete surgical excision should be the goal of surgery. The prognostic role of Ki-67, p-53, p-27, bcl-2, EGFR, and neuronal markers expression needs to be determined in multi-institutional studies due to tumor's rarity.

Intramedullary spinal cord primitive neuroectodermal tumor presenting with hydrocephalus.

Spinal primitive neuroectodermal tumors are exceedingly rare. Herewith, we present the first case of an intramedullary spinal cord tumor associated with hydrocephalus in a 2-month-old boy that presented with left hemiparesis. The patient had been diagnosed on prenatal ultrasound with enlarged ventricular system. At his current admission, a brain magnetic resonance imaging (MRI) revealed hydrocephalus and an intramedullary lesion extending from the second cervical to the first thoracic vertebrae. Dissemination of the tumor was revealed intracranially and in the spinal canal. After a ventriculoperitoneal shunt placement a radical resection of the tumor was performed, however some small tumor remnants could not be safely removed. Postoperative there was no neurologic deterioration. The tumor was diagnosed as a central nervous system primitive neuroectodermal tumor (World Health Organization grade IV). Spinal intramedullary primitive neuroectodermal tumors are extremely rare. In such rare tumors, multiinstitutional studies are needed for treatment guidelines to be established.

Immunohistochemical expression of cell-cycle regulators in pediatric embryonal brain tumors.

Embryonal tumors constitute the most common malignant brain tumor group in children. Experimental results indicate that genes involved in cell cycle and signal transduction are deregulated in medulloblastoma (MB) and atypical teratoid/rhabdoid tumors (AT/RT). The cell cycle is regulated by protein complexes composed of a regulatory subunit called Cyclin and a catalytic domain named Cyclin-dependent kinase (CDK). Cyclins and CDKs are in turn regulated by cyclin-dependent kinase inhibitors (CDKI) which inhibit cell-cycle progression. Cyclins D and Cyclin E are important for the passage of cells through G1 to S phase. P-27, a member of the universal CDKI family, is important in regulating the G1/S transition. Thus, the purpose of this study was to investigate the expression of p-27, Cyclin D3, and Cyclin E, and their possible prognostic significance in pediatric embryonal brain tumors. We retrospectively evaluated 51 children with embryonal tumors that were treated surgically in our institute. All patients had regular follow up examinations. The streptavidin-biotin HRP method was performed on paraffin sections for detection of p-27, Cyclin D3, and Cyclin E. There were 42 cases of MB and nine cases of AT/RT. Cyclin D3 expression was detected in 11/42 MB and 3/9 AT/RT patients. Cyclin E expression was detected in 28/42 MB and 8/9 AT/RT patients. High expression of Ki-67 (>50 %) and p-27 (>50 %) was observed in 23.8-73.8 % of MB patients. Combined high Ki-67 and p-27 expression was observed in 21.4 % cases of MB. In these cases there was expression of Cyclin E in 88.8 % and Cyclin D3 in 22.2 % of MB. No significant correlation was found between Ki-67 and p-27, Cyclin D3, and E. No correlation was found between Cyclin D3, Cyclin E, p-27, and overall survival. Increased p-27 and Cyclin E expression was detected in a substantial number of MB patients and in nearly all AT/RT patients. Further studies on a larger number of patients are needed to clarify a possible correlation of p-27 and Cyclin E with tumor behavior.

Medulloblastoma in a child with fragile X syndrome.

Fragile X syndrome is the most common cause of inherited intellectual impairment and has been associated with decreased incidence of cancer. We present the case of an 11-year-old boy with a diagnosis of fragile X syndrome who presented with gait imbalance, headache, and episodes of vomiting. Radiological investigation revealed the presence of a posterior fossa tumor. The patient was operated upon and the tumor proved to be a medulloblastoma (MB). To the best of our knowledge this is the first reported case of MB in a child with fragile X syndrome.

Meningioangiomatosis in a 5-year-old boy presenting with intractable seizures.

A 5-year-old boy with a history of epilepsy underwent brain magnetic resonance imaging (MRI) because of an increase in seizure frequency. Brain MRI demonstrated a left frontal lesion. The patient was operated upon, and gross total excision was performed. The histological diagnosis was meningioangiomatosis. On follow-up examination 10 years later, the patient was free of seizures and without any evidence of tumor recurrence. Meningioangiomatosis is a rare benign hamartomatous lesion that is associated with seizures. Complete excision is associated with favorable long-term outcome. The novelty of the present case is the young age of the child at presentation and the curative role of surgery considering the long-term follow-up.