Abstract

Intraneural perineuriomas are rare benign neoplasms. The gene associated with neurofibromatosis 2 (NF2) is located on chromosome 22q12, and mutations in NF2 are commonly seen in soft tissue perineuriomas. However, an association between NF2 mutations and intraneural perineuriomas (INPs) has not been well established. We present a 20-year-old male with NF2, multiple schwannomas and an intraneural perineurioma in the radial nerve at the spiral groove. Sequencing of NF2, SMARCB1, and LZTR1 was performed and demonstrated loss of the long arm of chromosome 22 including NF2, SMARCB1, and LZTR1, and a constitutional NF2:c.(-4577_-854)_(45-185)del alteration. We review the literature supporting two mutually exclusive pathways involving NF2 and TRAF7 mutations that lead to the development of INPs.

Author Details

Authors

• Bartholomew White¹
• Allan Belzberg²
• Shivani Ahlawat³
• Jaishri Blakeley^{4, 6}
• Fausto J. Rodriguez^{1, 5, 6}

Departments

• Department of
• ¹ Pathology,
• ² Neurosurgery,
• ³ Radiology and Radiological Science,
• ⁴ Neurology,
• ⁵ Ophthalmology, and the
• ⁶ Sydney Kimmel Comprehensive Cancer Center, Johns Hopkins Hospital, Baltimore, MD, USA

Address

Fausto J. Rodriguez, MD
Johns Hopkins University School of Medicine
Sheikh Zayed Tower, Room M2101
1800 Orleans Street, Baltimore, MD 21231, USA
Email: [email protected]

Citation