title: Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients.
abstract: OBJECTIVE
  The aim of this paper was to define the clinical characteristics of spinal ependymomas associated with neurofibromatosis Type 2 (NF2).
  
  
  METHODS
  The authors retrospectively reviewed the clinical records of patients with NF2 who had imaging findings consistent with ependymomas and were seen at Massachusetts General Hospital between 1994 and 2007. Clinical characteristics of these patients were obtained from hospital records, imaging studies, surgical reports, and pathology reports. Mutational analysis of the NF2 gene was performed in 37 of 44 unrelated patients.
  
  
  RESULTS
  Fifty-five patients met inclusion criteria for the study. The median age at diagnosis of NF2 was 21 years; the median time after diagnosis until identification of ependymomas was 5 years. Multiple ependymomas were present in 58% of patients. The most common site of involvement was the cervical cord or cervicomedullary junction (86% of imaging studies), followed by the thoracic and lumbar cords (62% and 8%, respectively). The majority of patients had no symptoms related to their tumors (42 patients [76%]). After a median follow-up of 50 months, surgery was performed in 11 patients (20%) for symptomatic progression (indications for surgery). Mutational analysis of the NF2 gene detected alterations in 28 (76%) of 37 unrelated patients, with nonsense and frameshift mutations accounting for 64% of detected mutations. The high rate of truncating mutations may help explain the high tumor burden in these patients.
  
  
  CONCLUSIONS
  Neurofibromatosis Type 2-related ependymomas exhibit an indolent growth pattern with tumor progression limited to a minority of patients. The authors believe that surveillance is reasonable for asymptomatic ependymomas, including those with cystic areas that expand the cord. For symptomatic tumors, resection may be warranted depending on age, overall clinical status, and ease of resectability.
authors.affiliation: Department of Neurology and Cancer Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. splotkin@partners.org
authors.forename: Scott R
authors.initials: SR
authors.lastname: Plotkin
authors.forename: Caroline C
authors.initials: CC
authors.lastname: O'Donnell
authors.forename: William T
authors.initials: WT
authors.lastname: Curry
authors.forename: Catherine M
authors.initials: CM
authors.lastname: Bove
authors.forename: Mia
authors.initials: M
authors.lastname: MacCollin
authors.forename: Fabio P
authors.initials: FP
authors.lastname: Nunes
mesh_terms: D000328:Adult; D018450:Disease Progression; D004806:Ependymoma / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D006801:Humans; D016518:Neurofibromatosis 2 / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D011859:Radiography; D012189:Retrospective Studies; D013120:Spinal Cord Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D016896:Treatment Outcome