Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2

Am J Med Genet A. 2012 Jan;158A(1):24-41. doi: 10.1002/ajmg.a.34359. Epub 2011 Dec 2.

Abstract

Neurofibromatosis type 2 (NF2) is a tumor suppressor syndrome characterized by bilateral vestibular schwannomas (VS) which often result in deafness despite aggressive management. Meningiomas, ependymomas, and other cranial nerve and peripheral schwannomas are also commonly found in NF2 and collectively lead to major neurologic morbidity and mortality. Traditionally, the overall survival rate in patients with NF2 is estimated to be 38% at 20 years from diagnosis. Hence, there is a desperate need for new, effective therapies. Recent progress in understanding the molecular basis of NF2 related tumors has aided in the identification of potential therapeutic targets and emerging clinical therapies. In June 2010, representatives of the international NF2 research and clinical community convened under the leadership of Drs. D. Gareth Evans (University of Manchester) and Marco Giovannini (House Research Institute) to review the state of NF2 treatment and clinical trials. This manuscript summarizes the expert opinions about current treatments for NF2 associated tumors and recommendations for advancing therapies emerging from that meeting. The development of effective therapies for NF2 associated tumors has the potential for significant clinical advancement not only for patients with NF2 but for thousands of neuro-oncology patients afflicted with these tumors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clinical Trials as Topic
  • Consensus
  • Endpoint Determination
  • Humans
  • Meningioma / diagnosis
  • Meningioma / therapy
  • Neurofibromatosis 2 / diagnosis*
  • Neurofibromatosis 2 / genetics
  • Neurofibromatosis 2 / therapy*
  • Radiosurgery
  • Research Design
  • Standard of Care