Neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as development of multiple CNS tumours. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas.  Instead, patients with this disease have:

These features gives rise to the acronym MISME, which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. In fact, labelling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities 5

The disease is rare with an estimated prevalence of 1:50,000. NF2 usually presents in young adults (age 18-24 years) 7.

Of patients with NF2, 50% have an affected parent (autosomal dominant inheritance) and 50% having a de novo mutation 6,7. Mutation of the NF2 gene on the long arm of chromosome 22 is responsible for the predisposition for tumour formation. This gene codes for a protein pNF2 or "schwannomin" (also known as "merlin"), which is a tumour suppressor predominantly found in neural tissue.

Although meningiomas are often an isolated findings in adults, their presence in a child should raise suspicion regarding NF2. The presence of multiple and different types spinal tumours also raise high suspicion of NF2 1.

There can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3.

Please refer articles on individual lesions for respective specific imaging features:

  • meningioma
  • schwannoma
    • usually inferior vestibular division of cranial nerve eight
    • can also be of the facial nerve
  • ependymoma: usually spinal intramedullary (not intracranial/intraventricular)

Bilateral vestibular schwannomas are diagnostic of NF2 7 but care should be taken because bilateral internal acoustic meatus masses are not specific for vestibular schwannoma and can represent, for example, sarcoid or metastases 6.

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Article information

rID: 4967
Section: Pathology
Synonyms or Alternate Spellings:
  • MISME (Neurofibromatosis) Type 2
  • MISME Neurofibromatosis Type 2
  • NF2
  • Neurofibromatosis type II
  • NF II
  • NF type 2
  • Neurofibromatosis - type II

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Cases and figures

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    Figure 1: example: acoustic schwannoma
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    Figure 2: example: ependymoma
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    Case 1: spine
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    NF 2  whole spine
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    NF2

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