Ebs schwannomatosis

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.