8,089
Views
17
CrossRef citations to date
0
Altmetric
Original Articles

What to know about schwannomatosis: a literature review

, , , , , , , & show all
Pages 171-174 | Received 05 Jul 2020, Accepted 08 Oct 2020, Published online: 02 Dec 2020

References

  • Beert E, Brems H, Renard M, et al. Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma. Genes Chromosomes Cancer 2012;51:852–7.
  • Gonzalvo A, Fowler A, Cook RJ, et al. Schwannomatosis, sporadic schwannomatosis, and familial schwannomatosis: A surgical series with long-term follow-up. Clinical article. J Neurosurg 2011;114:756–62.
  • Jacoby LB, MacCollin M, Parry DM, et al. Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis. Neurogenetics 1999;2:101–8.
  • Koontz NA, Wiens AL, Agarwal A, Hingtgen CM, Emerson RE, Mosier KM. Schwannomatosis: The overlooked neurofibromatosis? AJR Am J Roentgenol 2013;200:W646–53.
  • Merker VL, Esparza S, Smith MJ, Stemmer‐Rachamimov A, Plotkin SR. Clinical Features of Schwannomatosis: A Retrospective Analysis of 87 Patients. Oncologist 2012;17:1317–22.
  • Plotkin SR, Blakeley JO, Evans DG, et al. Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria, in. Am J Med Genet 2013;161:405–16.
  • Antinheimo J, Sankila R, Carpén O, Pukkala E, Sainio M, Jääskeläinen J. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 2000; 54:71–6.
  • MacCollin M, Chiocca EA, Evans DG, et al. Diagnostic criteria for schwannomatosis. Neurology 2005;64:1838–45.
  • Smith MJ, Bowers NL, Bulman M, et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology 2017;88:87–92.
  • Evans DGR, Huson SM, Birch JM. Malignant peripheral nerve sheath tumours in inherited disease. Clin Sarcoma Res 2012; 2:17
  • Ostrow KL, Donaldson K, Blakeley J, Belzberg A, Hoke A. Immortalized human schwann cell lines derived from tumors of schwannomatosis patients. PLoS ONE 2015;10:e0144620.
  • Gossai N, Biegel JA, Messiaen L, Berry SA, Moertel CL. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis. Am J Med Genet 2015;167:3186–91.
  • Yamamoto GL, Aguena M, Gos M, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 2015;52:413–21.