Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter’s Syndrome (KS) |
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Authors: | M L Garrè V Capra E Di Battista L Giampietri P Nozza A Raso A Pezzolo A Rossi C Milanaccio M Pavanello A Naselli |
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Institution: | (1) Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy;(2) Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy;(3) Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy;(4) Department of Pathology, Giannina Gaslini Institute, Genoa, Italy;(5) Department of Neuroradiology, Giannina Gaslini Institute, Genoa, Italy;(6) Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy;(7) MD Neuro-Oncologia, UO Emato-Oncologia Pediatrica, Giannina Gaslini Children’s Hospital, Largo G. Gaslini 5, 16147 Genoa, Italy;(8) Laboratory of Oncology, Giannina Gaslini Institute, Genoa, Italy |
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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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Keywords: | Klinefelter’ s syndrome Ependymoma Inherited cancer syndromes |
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