caa a22 4500 463180976 CHVBK 20180406164838.0 cr unu---uuuuu 170326e20070201xx s 000 0 eng 10.1007/s00381-006-0179-3 doi (NATIONALLICENCE)springer-10.1007/s00381-006-0179-3 Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS) [Elektronische Daten] [M. Garrè, V. Capra, E. Di Battista, L. Giampietri, P. Nozza, A. Raso, A. Pezzolo, A. Rossi, C. Milanaccio, M. Pavanello, A. Naselli] 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 30months 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 15months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16months; at 10years 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%. Springer-Verlag, 2006 Klinefelter's syndrome nationallicence Ependymoma nationallicence Inherited cancer syndromes nationallicence Garrè M. Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy aut Capra V. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut Di Battista E. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut Giampietri L. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut Nozza P. Department of Pathology, Giannina Gaslini Institute, Genoa, Italy aut Raso A. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut Pezzolo A. Laboratory of Oncology, Giannina Gaslini Institute, Genoa, Italy aut Rossi A. Department of Neuroradiology, Giannina Gaslini Institute, Genoa, Italy aut Milanaccio C. Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy aut Pavanello M. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut Naselli A. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut Child's Nervous System Springer-Verlag 23/2(2007-02-01), 219-223 0256-7040 23:2<219 2007 23 381 https://doi.org/10.1007/s00381-006-0179-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00381-006-0179-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Garrè M. Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Capra V. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Di Battista E. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Giampietri L. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Nozza P. Department of Pathology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Raso A. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Pezzolo A. Laboratory of Oncology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Rossi A. Department of Neuroradiology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Milanaccio C. Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Pavanello M. Department of Neurosurgery, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 700 1- Naselli A. Department of Endocrinology, Giannina Gaslini Institute, Genoa, Italy aut NATIONALLICENCE 773 0- Child's Nervous System Springer-Verlag 23/2(2007-02-01), 219-223 0256-7040 23:2<219 2007 23 381 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer