title: Pulmonary meningioma and neurinoma associated with multiple CNS tumours in a patient with neurofibromatosis type 2.
abstract: OBJECTIVE
  Neurofibromatosis type 2 (NF2) is a common neurocutaneous disorder that exhibits an autosomal dominant inheritance, with a mutation at chromosome 22q12.2. Two forms can be distinguished: the Wishart-phenotype with an early and aggressive course and the Feiling-Gardner-phenotype with a less dramatic presentation. In general, patients present bilateral vestibular schwannomas, meningiomas and neurinomas of the central and peripheral nervous system as well as neurofibromas and gliomas. There is no reported case of pulmonary meningiomas and neurinomas associated with NF2 until now.
  
  
  METHODS
  Here, we present a 16-year-old girl with NF-2 associated to CNS and pulmonary tumours and we discuss the case in the backlight of the literature.
  
  
  RESULTS
  The reported patient presented a de novo NF2 germline mutation (R341X) and displayed the Wishart-type of NF-2 since she is 11 years old, with a huge anaplastic biparietal falx meningioma and a tentorium meningioma and a tumour-associated parietal mass as well as hypacusis starting at the infant age of 3 years. Multiple cranial and spinal tumours with extra- and intramedullary localization were also found. Moreover, recurrent pulmonary tumours developed and were classified as benign meningiomas and a single neurinoma. No direct evidence concerning a relationship between the pulmonary and cerebral tumours could be drawn.
  
  
  CONCLUSIONS
  This rare case extends our knowledge of NF2 and also raises interesting questions about the pathogenesis of meningiomas outside the CNS.
authors.affiliation: Department of Neurosurgery, Friedrich Schiller University Medical Center, Jena, Germany. Jan.Walter@med.uni-jena.de
authors.forename: Jan
authors.initials: J
authors.lastname: Walter
authors.forename: Susanne A
authors.initials: SA
authors.lastname: Kuhn
authors.forename: Michael
authors.initials: M
authors.lastname: Brodhun
authors.forename: Rupert
authors.initials: R
authors.lastname: Reichart
authors.forename: Rolf
authors.initials: R
authors.lastname: Kalff
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D001929:Brain Edema; D016543:Central Nervous System Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology*; D002648:Child; D005260:Female; D016515:Genes, Neurofibromatosis 2 / Q000502:physiology; D018095:Germ-Line Mutation; D006801:Humans; D008168:Lung / Q000473:pathology; D008175:Lung Neoplasms / Q000473:pathology / Q000556:secondary* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D008579:Meningioma / Q000473:pathology / Q000556:secondary* / Q000601:surgery; D016518:Neurofibromatosis 2 / Q000150:complications* / Q000235:genetics; D014057:Tomography, X-Ray Computed