Artikel
Pediatric atypical teratoid/rhabdoid tumors (AT/RT) with unusual intracranial localization – single center experience with 3 rare cases
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Autoren
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Jan Walter
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
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Christian Herbold
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
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Rupert Reichart
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
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Albrecht Waschke
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
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Arend Koch
- Neuropathologisches Institut, Charité CCM, Berlin, Germany
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Rolf Kalff
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
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Christian Ewald
- Neurochirurgische Klinik, Friedrich-Schiller-University, Jena, Germany
| Veröffentlicht: | 16. September 2010 |
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Gliederung
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Objective: Atypical teratoid rhabdoid tumor (AT/RT) of the CNS is a rare clinicopathological tumor entity with distinct morphologic, immunophenotypic and molecular characteristics. This highly malignant tumor of childhood typically involves the posterior fossa. There are only single case reports of primary supratentorial or even leptomenigeal AT/RT. Furthermore, there is a histological overlap between AT/RT and primary extracranial malignant rhabdoid tumor (mRT) with intracranial tumor manifestation.
Methods: Case presentation of single center experience with 3 rare cases of AT/RT.
Results:
- 1.
- Leptomeningeal AT/RT distribution with spinal metastasis
A 3.5 year-old girl with a history of persistent headache, right sided facial palsy and ataxic gait was admitted to hospital under the assumed diagnosis of meningitis. LP revealed no bacteria but 71% tumor cells. MRI showed increased leptomeningeal enhancement in the cerebellar folia and in the perimesencephalic cisterns with involvement of the cranial nerves. Furthermore solid meningeal thickening was found at the right temporal pole and at L3. Diagnosis of AT/RT was established by cytology from the CSF. Until now therapy follows the European Rhabdoid Registry Protocoll, including whole brain radiation (WBR).
- 2.
- Supratentorial, primary intracranial AT/RT
A 3 year-old boy presented with symptoms of elevated ICP. MRI showed a primary intracranial supratentorial frontopolar lesion consisting of cystic and solid portions. Despite its extra-axial supratentorial localization, this lesion was classified as AT/RT after tumor biopsy, with its tumor cells lacking INI1-expression. The patient underwent multiagent chemotherapy postoperatively. WBR is planned.
- 3.
- Primary extracranial MRT with multicentric intracranial tumor manifestation
The MRI of a 2.5 year-old girl showed a right-sided frontopolar tumor with involvement of the ethmoidal cells and further multicentric supra- and infratentorial lesions. Tumor biopsy revealed a malignant rhabdoid tumor without mutation of the SMARCB1/INI1-gene. Due to its primary extracranial manifestation this tumor was classified as mRT with intracranial expansion and metastases.
Conclusions: In the presence of aggressive pediatric intracranial tumors, the diagnosis of AT/RT must always be considered, even if the localization is unusual. Examples include extra-axial supratentorial localization or even involving the meninges without any intraparenchymal mass. With a primary extracranial manifestation, the main differential diagnosis remains mRT.
