Ebs schwannomatosis
•Download as PPTX, PDF•
1 like•929 views
Macquarie Neurosurgery schwannomatosis
Recommended
More Related Content
What's hot
What's hot (20)
Viewers also liked
Viewers also liked (20)
Similar to Ebs schwannomatosis
Similar to Ebs schwannomatosis (20)
More from MQ_Library
More from MQ_Library (15)
Recently uploaded
Recently uploaded (20)
Ebs schwannomatosis
- 1. MACQUARIE NEUROSURGERY Evidence Based Surgery Dr Michael Mulcahy 10th of November, 2016
- 3. Case - 41y.o. male
- 4. Case
- 5. Case
- 6. 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
- 7. Searchable Question (PICo) P - patients with schwannomatosis and MS I - disease association Co - epidemiological or pathophysiological OR Population Interest Evaluation/Effect Q: Is there an association between schwannomatosis and multiple sclerosis?
- 8. Search Strategy Goal: broad search strategy Sources: Informal google scholar search Medline, Embase Scopus Reference and Scopus citation check Include: all articles; no search function limitations Exclude: cases without both diseases
- 9. Informal search No google scholar findings
- 10. Medline
- 11. Medline
- 12. Medline
- 13. Medline
- 14. Embase
- 15. Embase
- 16. Scopus
- 19. 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
- 20. 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
- 21. 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.
Editor's Notes
- 41 male Dx relapsing remitting MS in 2003 interferon beta 1a; fingolimod; peg interferon beta 1a 2004 he was told he had NF due to multiple lesions in his right forearm painful, mobile 5-20mm in size no family hx of NF
- 41 male Dx relapsing remitting MS in 2003 interferon beta 1a; fingolimod; peg interferon beta 1a 2004 he was told he had NF due to multiple lesions in his right forearm painful, mobile 5-20mm in size no family hx of NF
- 41 male Dx relapsing remitting MS in 2003 interferon beta 1a; fingolimod; peg interferon beta 1a 2004 he was told he had NF due to multiple lesions in his right forearm painful, mobile 5-20mm in size no family hx of NF
- incidence: 1 case per 40 000-80 000 2011 International Schwannomatosis Workshop (before LZRT1 discovered) LOH - loss of heterozygosity NF2 - codes for merlin (22q.12). It’s a tumour suppressor gene; germline mutation caused NF2; sporadic causes individual tumours. (both on 22q.11) SMARCB1gene in 40–50% of familial and less than 10% of sporadic cases of schwannomatosis SMARCB1 mutation-positive schwannomas, the deletions always involved loss of one copy of chromosome 22
- Better for qualitative research rather than quantitative research (Curtin uni or Toronto) Population; Interest; Context (rather than comparison) (e.g. Africa etc.) Population; Interest; Evaluation/Effect
- Medline and Scopus Note - not many schwannomatosis results
- How broad to go with MS? Exploded tree 45000 without exploding, 50000 after
- neurilemmomatosis not included
- multiple sclerosis includes the terms that required exploding in medline more than double the number
- Reasons for exclusion: case reports of MS and schwannoma peripheral tumour mimicking MS >20 cases before the 80s without abstracts “nystagmus” imaging studies (e.g. posterior fossa MRI; VEP) symptom/sign review “current perspectives on tinnitus”
- Exploded function includes NF1 and NF2 Whilst no schwannomatosis papers, 12 papers on NF1 and MS Running the same search on emboss found 1 case report on NF2 and MS
- OMgp gene is on NF1 gene 17q.11 Alternatively, in NF1 abnormal exposure to peripheral myelin may activate an autoimmune response against CNS myelin Or, NF1s tumour suppressor effect also exerts action on immune cells, and a mutation leads to autoimmune response Based on local population prevalence estimates in iran, italy Johnson - sequenced the OMgp gene in 4 patients with NF1 and MS, showed that MS could occur in NF without OMgp mutation
- Merits documentation in the literature Relatively new condition, and still further genetic causes to be found