title: Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS).
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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%.
authors.affiliation: Department of Hematology/Oncology, Giannina Gaslini Institute, Genoa, Italy. GARREMA@iol.it
authors.forename: M L
authors.initials: ML
authors.lastname: Garrè
authors.forename: V
authors.initials: V
authors.lastname: Capra
authors.forename: E
authors.initials: E
authors.lastname: Di Battista
authors.forename: L
authors.initials: L
authors.lastname: Giampietri
authors.forename: P
authors.initials: P
authors.lastname: Nozza
authors.forename: A
authors.initials: A
authors.lastname: Raso
authors.forename: A
authors.initials: A
authors.lastname: Pezzolo
authors.forename: A
authors.initials: A
authors.lastname: Rossi
authors.forename: C
authors.initials: C
authors.lastname: Milanaccio
authors.forename: M
authors.initials: M
authors.lastname: Pavanello
authors.forename: A
authors.initials: A
authors.lastname: Naselli
mesh_terms: D016543:Central Nervous System Neoplasms / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004806:Ependymoma / Q000150:complications / Q000235:genetics*; D005904:Glial Fibrillary Acidic Protein / Q000378:metabolism; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency*
chemical_list: D005904:Glial Fibrillary Acidic Protein; D042965:Methylenetetrahydrofolate Reductase (NADPH2)