ebs schwannomatosis
TRANSCRIPT
MACQUARIE NEUROSURGERYEvidence Based Surgery
Dr Michael Mulcahy
10th of November, 2016
Schwannomatosisand
Multiple Sclerosis?
Case - 41y.o. male
Case
Case
Schwannomatosis
- The phenotype of schwannomatosis overlaps with
NF2, and the first published reports did not appear
until the 1990s
- usually sporadic, sometimes autosomal dominant
(only 15% have a family history)
- characterised by multiple schwannomas (spinal,
cutaneous, cranial) and multiple meningiomas
- caused by mutations in SMARCB1 (discovered
2007) or LZTR1 (discovered 2014), though these
account for less than half of all cases
- associated with inactivation of the NF2 gene in the
tumour but not in the germline
Searchable Question (PICo)
P - patients with schwannomatosis and MSI - disease associationCo - epidemiological or pathophysiological
OR
PopulationInterestEvaluation/Effect
Q: Is there an association between schwannomatosis and multiple sclerosis?
Search Strategy
Goal: broad search strategy
Sources:Informal google scholar searchMedline, EmbaseScopusReference and Scopus citation check
Include: all articles; no search function limitations
Exclude: cases without both diseases
Informal search
No google scholar findings
Medline
Medline
Medline
Medline
Embase
Embase
Scopus
PRISMA
Neurofibromatoses
Results
1. No articles discussing schwannomatosis and MS
2. There are case reports proposing link between NF1 and MS
• NF1 occurring in MS 6-15 times higher than expected (Etemadifar et al; Perini et al.)
• interest is in oligodendrocyte-myelin glycoprotein (OMgp), a membrane glycoprotein. Possible target antigen in autoimmune demyelinating disease
• however, OMgp mutation shown to be neither sufficient nor necessary for the development of MS (Johnson et al.)
3. 1 case report of NF2 and MS … no evidence that there is a genetic relationship between the two
Conclusions
• No previous cases of schwannomatosis and MS in the same patient
described.
• The association between NF1 and MS is interesting, but it may not have
pathogenetic significance
References
Louis DN, Ohgaki H, Wiestler OD, et al. (2016) World Health Organization classification of tumours of the central nervous system. International Agency for Research on Cancer, Lyon
Etemadifar M, Fatehi F, Sahraian MA, et al. Multiple sclerosis and neurofibromatosis type 1: report of seven patients from Iran. Mult Scler. 2009;15:1126-30.
Perini P, Gallo P. The range of multiple sclerosis associated with neurofibromatosis type 1. J Neurol Neurosurg Psychiatry. 2001;71:679-81.
Johnson MR, Ferner RE, Bobrow M, et al. Detailed analysis of the oligodendrocyte myelin glycoprotein gene in four patients with neurofibromatosis 1 and primary progressive multiple sclerosis. J Neurol Neurosurg Psychiatry. 2000;68:643-6.