Neurofibromatosis type II

Neurofibromatosis type II
Other namesmultiple inherited schwannomas, meningiomas, and ependymomas (MISME syndrome))
Figure of various morbidities associated with neurofibromatosis type II.[1]
SpecialtyMedical genetics, neurology Edit this on Wikidata

Neurofibromatosis type II (also known as MISME syndrome – multiple inherited schwannomas, meningiomas, and ependymomas) is a genetic condition that may be inherited or may arise spontaneously, and causes benign tumors of the brain, spinal cord, and peripheral nerves. The types of tumors frequently associated with NF2 include vestibular schwannomas, meningiomas, and ependymomas. The main manifestation of the condition is the development of bilateral benign brain tumors in the nerve sheath of the cranial nerve VIII, which is the "auditory-vestibular nerve" that transmits sensory information from the inner ear to the brain. Besides, other benign brain and spinal tumors occur. Symptoms depend on the presence, localisation and growth of the tumor(s). Many people with this condition also experience vision problems. Neurofibromatosis type II (NF2 or NF II) is caused by mutations of the "Merlin" gene,[2] which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. Historically the underlying disorder has not had any therapy due to the cell function caused by the genetic mutation.

  1. ^ Bachir S, Shah S, Shapiro S, Koehler A, Mahammedi A, Samy RN; et al. (2021). "Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis". Int J Mol Sci. 22 (2): 690. doi:10.3390/ijms22020690. PMC 7828193. PMID 33445724.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ Striedinger K, VandenBerg SR, Baia GS, McDermott MW, Gutmann DH, Lal A (November 2008). "The neurofibromatosis 2 tumor suppressor gene product, merlin, regulates human meningioma cell growth by signaling through YAP". Neoplasia. 10 (11): 1204–1212. doi:10.1593/neo.08642. PMC 2570596. PMID 18953429.