PMID- 19476995
OWN - NLM
STAT- MEDLINE
DCOM- 20090619
LR  - 20220316
IS  - 1474-547X (Electronic)
IS  - 0140-6736 (Print)
IS  - 0140-6736 (Linking)
VI  - 373
IP  - 9679
DP  - 2009 Jun 6
TI  - Neurofibromatosis type 2.
PG  - 1974-86
LID - 10.1016/S0140-6736(09)60259-2 [doi]
AB  - Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome 
      that results from mutations in the NF2 tumour suppressor gene located on 
      chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% 
      penetrance by 60 years of age. Half of patients inherit a germline mutation from 
      an affected parent and the remainder acquire a de novo mutation for 
      neurofibromatosis type 2. Patients develop nervous system tumours (schwannomas, 
      meningiomas, ependymomas, astrocytomas, and neurofibromas), peripheral 
      neuropathy, ophthalmological lesions (cataracts, epiretinal membranes, and 
      retinal hamartomas), and cutaneous lesions (skin tumours). Optimum treatment is 
      multidisciplinary because of the complexities associated with management of the 
      multiple, progressive, and protean lesions associated with the disorder. We 
      review the molecular pathogenesis, genetics, clinical findings, and management 
      strategies for neurofibromatosis type 2.
FAU - Asthagiri, Ashok R
AU  - Asthagiri AR
AD  - Surgical Neurology Branch, National Institute of Neurological Disorders and 
      Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA. 
      asthagiria@ninds.nih.gov
FAU - Parry, Dilys M
AU  - Parry DM
FAU - Butman, John A
AU  - Butman JA
FAU - Kim, H Jeffrey
AU  - Kim HJ
FAU - Tsilou, Ekaterini T
AU  - Tsilou ET
FAU - Zhuang, Zhengping
AU  - Zhuang Z
FAU - Lonser, Russell R
AU  - Lonser RR
LA  - eng
GR  - Z99 NS999999/ImNIH/Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
PT  - Review
DEP - 20090522
PL  - England
TA  - Lancet
JT  - Lancet (London, England)
JID - 2985213R
RN  - 0 (Neurofibromin 2)
SB  - IM
MH  - Cataract/etiology
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Disease Progression
MH  - Gene Frequency/genetics
MH  - Genes, Neurofibromatosis 2
MH  - Genetic Testing
MH  - Humans
MH  - Molecular Biology
MH  - Mutation/genetics
MH  - Nervous System Neoplasms/etiology
MH  - *Neurofibromatosis 2/diagnosis/epidemiology/genetics/therapy
MH  - Neurofibromin 2/genetics
MH  - Patient Care Team/organization & administration
MH  - Pedigree
MH  - Penetrance
MH  - Peripheral Nervous System Diseases/etiology
MH  - Skin Neoplasms/etiology
MH  - Survival Rate
PMC - PMC4748851
MID - NIHMS756006
COIS- Conflicts of interest We declare that we have no conflicts of interest.
EDAT- 2009/05/30 09:00
MHDA- 2009/06/20 09:00
PMCR- 2016/02/10
CRDT- 2009/05/30 09:00
PHST- 2009/05/30 09:00 [entrez]
PHST- 2009/05/30 09:00 [pubmed]
PHST- 2009/06/20 09:00 [medline]
PHST- 2016/02/10 00:00 [pmc-release]
AID - S0140-6736(09)60259-2 [pii]
AID - 10.1016/S0140-6736(09)60259-2 [doi]
PST - ppublish
SO  - Lancet. 2009 Jun 6;373(9679):1974-86. doi: 10.1016/S0140-6736(09)60259-2. Epub 
      2009 May 22.