Abstract
Objects
Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter’s Syndrome (KS) as co-morbid condition.
Materials and methods
The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma.
Conclusion
In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.
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Acknowledgements
This work was supported by the Associazione per la Ricerca sui Tumori Cerebrali del Bambino” and the “Italian Association for Cancer Research (AIRC)”. Authors thank Sara Calmanti for her excellent secretarial assistance.
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Garrè, M.L., Capra, V., Di Battista, E. et al. Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS). Childs Nerv Syst 23, 219–223 (2007). https://doi.org/10.1007/s00381-006-0179-3
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DOI: https://doi.org/10.1007/s00381-006-0179-3