Cranial Meningioma in Neurofibromatosis Type 2 Patients: Role of Mutations

Chapter
First Online:
Part of the Tumors of the Central Nervous System book series (TCNS, volume 11)

Abstract

Meningiomas are the most common form of primary intracranial tumour in adults and are associated with the neurogenetic syndrome neurofibromatosis type 2 (NF2). Somatic mutations of the NF2 gene are found in the majority of both sporadic and NF2-associated meningiomas. With comprehensive genetic testing germline mutations can be identified in approximately 93 % of NF2 patients. The type and location of these mutations have both been shown to determine the risk of meningioma in these patients. It is also possible that sporadic and NF2 disease-associated meningiomas arise as a result of different pathological mechanisms.

Keywords

Nonsense Mediate Decay Actin Binding Domain Ferm Domain Spinal Meningioma High Grade Meningioma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
This is a preview of subscription content, log in to check access.

References

  1. Adams EF, Schrell UM, Fahlbusch R, Thierauf P (1990) Hormonal dependency of cerebral meningiomas. Part 2: In vitro effect of steroids, bromocriptine, and epidermal growth factor on growth of meningiomas. J Neurosurg 73(5):750–755. doi: 10.3171/jns.1990.73.5.0750 PubMedCrossRefGoogle Scholar
  2. Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP (2007) Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat 28(1):1–12. doi: 10.1002/humu.20393 PubMedCrossRefGoogle Scholar
  3. Antinheimo J, Sankila R, Carpen O, Pukkala E, Sainio M, Jaaskelainen J (2000) Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 54(1):71–76PubMedCrossRefGoogle Scholar
  4. Baser ME (2006) The distribution of constitutional and somatic mutations in the neurofibromatosis 2 gene. Hum Mutat 27(4):297–306. doi: 10.1002/humu.20317 PubMedCrossRefGoogle Scholar
  5. Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C, Joncourt F, Parry DM, Rouleau GA, Evans DG (2005) The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2. J Med Genet 42(7):540–546. doi: 10.1136/jmg.2004.029504, 42/7/540 [pii]PubMedCentralPubMedCrossRefGoogle Scholar
  6. CBTRUS (2012) CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2004–2008. Central Brain Tumor Registry of the United States, HinsdaleGoogle Scholar
  7. Christiaans I, Kenter SB, Brink HC, van Os TA, Baas F, van den Munckhof P, Kidd AM, Hulsebos TJ (2010) Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas. J Med Genet 48(2):93–97. doi: 10.1136/jmg.2010.082420, jmg.2010.082420 [pii]PubMedCrossRefGoogle Scholar
  8. Evans DG (2009) Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis 4:16PubMedCentralPubMedCrossRefGoogle Scholar
  9. Evans DG, Huson SM, Donnai D, Neary W, Blair V, Teare D, Newton V, Strachan T, Ramsden R, Harris R (1992) A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet 29(12):841–846PubMedCentralPubMedCrossRefGoogle Scholar
  10. Evans DG, Blair V, Strachan T, Lye RH, Ramsden RT (1995) Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females. J Laryngol Otol 109(9):830–835PubMedGoogle Scholar
  11. Evans DG, Birch JM, Ramsden RT (1999) Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child 81(6):496–499PubMedCentralPubMedCrossRefGoogle Scholar
  12. Evans DG, Watson C, King A, Wallace AJ, Baser ME (2005) Multiple meningiomas: differential involvement of the NF2 gene in children and adults. J Med Genet 42(1):45–48. doi: 10.1136/jmg.2004.023705, 42/1/45 [pii]PubMedCentralPubMedCrossRefGoogle Scholar
  13. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet 152A(2):327–332. doi: 10.1002/ajmg.a.33139 PubMedCrossRefGoogle Scholar
  14. Goutagny S, Kalamarides M (2010) Meningiomas and neurofibromatosis. J NeuroOncol 99(3):341–347. doi: 10.1007/s11060-010-0339-x PubMedCrossRefGoogle Scholar
  15. Gutmann DH, Donahoe J, Perry A, Lemke N, Gorse K, Kittiniyom K, Rempel SA, Gutierrez JA, Newsham IF (2000) Loss of DAL-1, a protein 4.1-related tumor suppressor, is an important early event in the pathogenesis of meningiomas. Hum Mol Genet 9(10):1495–1500PubMedCrossRefGoogle Scholar
  16. Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG (2010) SMARCB1 mutations are not a common cause of multiple meningiomas. J Med Genet 47(8):567–568. doi: 10.1136/jmg.2009.075721, jmg.2009.075721 [pii]PubMedCrossRefGoogle Scholar
  17. Hansson CM, Buckley PG, Grigelioniene G, Piotrowski A, Hellstrom AR, Mantripragada K, Jarbo C, Mathiesen T, Dumanski JP (2007) Comprehensive genetic and epigenetic analysis of sporadic meningioma for macro-mutations on 22q and micro-mutations within the NF2 locus. BMC Genomics 8:16PubMedCentralPubMedCrossRefGoogle Scholar
  18. Heinrich B, Hartmann C, Stemmer-Rachamimov AO, Louis DN, MacCollin M (2003) Multiple meningiomas: investigating the molecular basis of sporadic and familial forms. Int J Cancer 103(4):483–488. doi: 10.1002/ijc.10840 PubMedCrossRefGoogle Scholar
  19. Kluwe L, MacCollin M, Tatagiba M, Thomas S, Hazim W, Haase W, Mautner VF (1998) Phenotypic variability associated with 14 splice-site mutations in the NF2 gene. Am J Med Genet 77(3):228–233PubMedCrossRefGoogle Scholar
  20. Koper JW, Foekens JA, Braakman R, Lamberts SW (1990) Effects of progesterone on the response to epidermal growth factor and other growth factors in cultured human meningioma cells. Cancer Res 50(9):2604–2607PubMedGoogle Scholar
  21. Korhonen K, Salminen T, Raitanen J, Auvinen A, Isola J, Haapasalo H (2006) Female predominance in meningiomas can not be explained by differences in progesterone, estrogen, or androgen receptor expression. J Neuro-Oncol 80(1):1–7. doi: 10.1007/s11060-006-9146-9 CrossRefGoogle Scholar
  22. Kros J, de Greve K, van Tilborg A, Hop W, Pieterman H, Avezaat C, Lekanne Dit Deprez R, Zwarthoff E (2001) NF2 status of meningiomas is associated with tumour localization and histology. J Pathol 194(3):367–372. doi: 10.1002/path.909, [pii] 10.1002/path.909PubMedCrossRefGoogle Scholar
  23. Larson JJ, Tew JM Jr, Simon M, Menon AG (1995) Evidence for clonal spread in the development of multiple meningiomas. J Neurosurg 83(4):705–709. doi: 10.3171/jns.1995.83.4.0705 PubMedCrossRefGoogle Scholar
  24. Lekanne Deprez RH, Bianchi AB, Groen NA, Seizinger BR, Hagemeijer A, van Drunen E, Bootsma D, Koper JW, Avezaat CJ, Kley N et al (1994) Frequent NF2 gene transcript mutations in sporadic meningiomas and vestibular schwannomas. Am J Hum Genet 54(6):1022–1029PubMedGoogle Scholar
  25. Lomas J, Bello MJ, Arjona D, Alonso ME, Martinez-Glez V, Lopez-Marin I, Aminoso C, de Campos JM, Isla A, Vaquero J, Rey JA (2005) Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas. Genes Chromosomes Cancer 42(3):314–319PubMedCrossRefGoogle Scholar
  26. Lopez-Correa C, Zucman-Rossi J, Brems H, Thomas G, Legius E (2000) NF2 gene deletion in a family with a mild phenotype. J Med Genet 37(1):75–77PubMedCentralPubMedCrossRefGoogle Scholar
  27. Martinez-Glez V, Bello MJ, Franco-Hernandez C, De Campos JM, Isla A, Vaquero J, Rey JA (2005) Mutational analysis of the DAL-1/4.1B tumour-suppressor gene locus in meningiomas. Int J Mol Med 16(4):771–774PubMedGoogle Scholar
  28. Martuza RL, Miller DC, MacLaughlin DT (1985) Estrogen and progestin binding by cytosolic and nuclear fractions of human meningiomas. J Neurosurg 62(5):750–756. doi: 10.3171/jns.1985.62.5.0750 PubMedCrossRefGoogle Scholar
  29. Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, Samii M, Wais R, Pulst SM (1996) The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 38(5):880–885, discussion 885–886PubMedCrossRefGoogle Scholar
  30. Nakasu S, Hirano A, Shimura T, Llena JF (1987) Incidental meningiomas in autopsy study. Surg Neurol 27(4):319–322PubMedCrossRefGoogle Scholar
  31. Nunes F, Shen Y, Niida Y, Beauchamp R, Stemmer-Rachamimov AO, Ramesh V, Gusella J, MacCollin M (2005) Inactivation patterns of NF2 and DAL-1/4.1B (EPB41L3) in sporadic meningioma. Cancer Genet Cytogenet 162(2):135–139. doi: 10.1016/j.cancergencyto.2005.04.003, S0165-4608(05)00206-2 [pii]PubMedCrossRefGoogle Scholar
  32. Perry A, Dehner LP (2003) Meningeal tumors of childhood and infancy. An update and literature review. Brain Pathol 13(3):386–408PubMedCrossRefGoogle Scholar
  33. Rieske P, Zakrzewska M, Piaskowski S, Jaskolski D, Sikorska B, Papierz W, Zakrzewski K, Liberski PP (2003) Molecular heterogeneity of meningioma with INI1 mutation. Mol Pathol 56(5):299–301PubMedCentralPubMedCrossRefGoogle Scholar
  34. Schmitz U, Mueller W, Weber M, Sevenet N, Delattre O, von Deimling A (2001) INI1 mutations in meningiomas at a potential hotspot in exon 9. Br J Cancer 84(2):199–201. doi: 10.1054/bjoc.2000.1583, S0007092000915830 [pii]PubMedCentralPubMedCrossRefGoogle Scholar
  35. Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG (2011) Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset. J Med Genet 48(4):261–265. doi: 10.1136/jmg.2010.085241, jmg.2010.085241 [pii]PubMedCrossRefGoogle Scholar
  36. van Tilborg AA, Morolli B, Giphart-Gassler M, de Vries A, van Geenen DA, Lurkin I, Kros JM, Zwarthoff EC (2006) Lack of genetic and epigenetic changes in meningiomas without NF2 loss. J Pathol 208(4):564–573. doi: 10.1002/path.1909 PubMedCrossRefGoogle Scholar
  37. Wada K, Maruno M, Suzuki T, Kagawa N, Hashiba T, Fujimoto Y, Hashimoto N, Izumoto S, Yoshimine T (2004) Chromosomal and genetic aberrations differ with meningioma subtype. Brain Tumor Pathol 21(3):127–133PubMedCrossRefGoogle Scholar
  38. Watson CJ, Gaunt L, Evans G, Patel K, Harris R, Strachan T (1993) A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus. Hum Mol Genet 2(6):701–704PubMedCrossRefGoogle Scholar
  39. Weber RG, Bostrom J, Wolter M, Baudis M, Collins VP, Reifenberger G, Lichter P (1997) Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression. Proc Natl Acad Sci U S A 94(26):14719–14724PubMedCentralPubMedCrossRefGoogle Scholar
  40. Wellenreuther R, Kraus JA, Lenartz D, Menon AG, Schramm J, Louis DN, Ramesh V, Gusella JF, Wiestler OD, von Deimling A (1995) Analysis of the neurofibromatosis 2 gene reveals molecular variants of meningioma. Am J Pathol 146(4):827–832PubMedCentralPubMedGoogle Scholar
  41. Yang C, Asthagiri AR, Iyer RR, Lu J, Xu DS, Ksendzovsky A, Brady RO, Zhuang Z, Lonser RR (2011) Missense mutations in the NF2 gene result in the quantitative loss of merlin protein and minimally affect protein intrinsic function. Proc Natl Acad Sci U S A 108(12):4980–4985. doi: 10.1073/pnas.1102198108, 1102198108 [pii]PubMedCentralPubMedCrossRefGoogle Scholar
  42. Zucman-Rossi J, Legoix P, Der Sarkissian H, Cheret G, Sor F, Bernardi A, Cazes L, Giraud S, Ollagnon E, Lenoir G, Thomas G (1998) NF2 gene in neurofibromatosis type 2 patients. Hum Mol Genet 7(13):2095–2101PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Genetic Medicine, St. Mary’s Hospital, Manchester Academic Health Sciences CenterUniversity of ManchesterManchesterUK

Personalised recommendations