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Schwannomatosis: a clinical and pathologic study

M MacCollin1, W Woodfin, D Kronn

  • 1Department of Neurology, Massachusetts General Hospital, Boston, USA.

Neurology
|April 1, 1996
PubMed
Summary

Multiple schwannomas, benign nerve sheath tumors, can occur distinctly from neurofibromatosis 2 (NF2). This study identifies a unique clinical problem in patients with multiple schwannomas lacking vestibular tumors.

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Clinical genetics·2017

Area of Science:

  • Oncology
  • Genetics
  • Neurology

Background:

  • Schwannomas are typically solitary benign nerve sheath tumors.
  • Multiple schwannomas are often associated with neurofibromatosis 2 (NF2).
  • Emerging evidence suggests schwannomatosis may be a distinct clinical entity.

Observation:

  • This study examined 14 patients with multiple schwannomas without NF2-defining vestibular schwannoma.
  • Patients presented with diverse symptoms, including pain from peripheral nerve tumors, spinal nerve root, and cranial nerve tumors.
  • Some patients had multiple tumors localized to a single limb.

Findings:

  • The 14 patients did not display phenotypic overlap with known neurofibromatoses.
  • Only one patient reported a positive family history of the condition.

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  • Multiple schwannomas, in the absence of vestibular schwannoma, represent a distinct clinical presentation.

    • Implications:

    • These findings suggest schwannomatosis without vestibular schwannoma is a separate clinical issue.
    • Further molecular genetic research is necessary to elucidate the pathophysiology of this condition.
    • This distinct entity requires tailored diagnostic and management strategies.