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Multiple intradural-extramedullary ependymomas: proven dissemination by genetic analysis
Murat Vural1, Ali Arslantas, Evrim Ciftci
1Department of Neurosurgery, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey. mvural@ogu.edu.tr
Journal of Neurosurgery. Spine
|May 4, 2010
Summary
Genetic analysis confirmed three simultaneous ependymomas in a single patient originated from the same primary tumor. This highlights the importance of genetic testing to understand the development of multiple neural axis tumors.
Area of Science:
- Neuro-oncology
- Genetics
- Neurosurgery
Background:
- Ependymomas are tumors arising from ependymal cells, commonly found in the central nervous system.
- Multiple ependymomas are rare, and their origin (metastatic vs. multicentric) can be challenging to determine.
- Distinguishing between tumor spread via cerebrospinal fluid (CSF) and independent foci is crucial for understanding disease progression.
Observation:
- A 45-year-old woman presented with progressive neck and back pain and ambulation difficulties.
- MR imaging identified three distinct ependymomas: one at the cervicomedullary junction and two intradural-extramedullary spinal tumors (T5-6 and T8-9).
- Surgical resection of all three tumors was successfully performed in a two-stage procedure.
Findings:
- Histopathological examination confirmed all three lesions as ependymomas.
- Advanced genetic analyses, including conventional cytogenetics, M-FISH, and FISH for 22q11 and EGFR loci, revealed a common origin for all tumors.
- The genetic data indicated that the multiple ependymomas arose from a single primary tumor, rather than independent multicentric origins.
Implications:
- Genetic analysis is essential for definitively determining the origin of multiple ependymomas.
- Understanding the mechanism of tumor dissemination (CSF spread vs. multicentricity) is critical for accurate diagnosis and treatment planning.
- This case underscores the utility of integrated histopathological and genetic approaches in neuro-oncology.
