Neurofibromatoses

Advances in Experimental Medicine and Biology

Volumn 724, Issue , 2012, Pages 266-277

  Uhlmann, Erik J ^a   Plotkin, Scott R ^a  

^a MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MERLIN;

ARTICLE; BONE DYSPLASIA; BRAIN RADIOGRAPHY; CAFE AU LAIT SPOT; CANCER RADIOTHERAPY; CANCER SURGERY; CLINICAL FEATURE; DIAGNOSTIC VALUE; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; LENTIGO; MOLECULAR DIAGNOSIS; MOLECULAR MODEL; MUTATIONAL ANALYSIS; NEUROFIBROMA; NEUROFIBROMATOSIS; NEUROFIBROMATOSIS 1 GENE; NEUROFIBROMATOSIS 2 GENE; NEUROPATHOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE GLIOMA; PRIORITY JOURNAL; PROTEIN FUNCTION; SOMATIC MUTATION; SWI SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY B MEMBER 1 GENE; TUMOR GENE; GENETICS; REVIEW;

HUMANS; MAGNETIC RESONANCE IMAGING; NEUROFIBROMATOSES; NEUROFIBROMATOSIS 1; NEUROFIBROMATOSIS 2;

EID: 84859484004     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-0653-2_20     Document Type: Article

References (79)

1. Wishart JH. Case of tumours in the skull, dura mater and brain. Edinburgh Med Surg J 1822; 18:393-397.
2. von Recklinghausen F. Uber die multiplen Fibrome der Haut und ihre Beziehung zu multiplen Neuromen. Berlin, Germany: August Hirschwald; 1882.
3. Crump T. Translation of case reports in Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen by F. v. Recklinghausen. Adv Neurol 1981; 29:259-275.
4. Friedman JM, Gutmann DH, MacCollin M et al. Neurofibromatosis: Phenotype, Natural History and Pathogenesis, 3rd edition, Baltimore, Johns Hopkins Press; 1999.
5. EvansDG,HusonSM,DonnaiDetal. Aclinicalstudyoftype2neurofibromatosis. QJMed 1992;304:603-618.
6. AntinheimoJ,SankilaR,CarpenOetal.Population- basedanalysisofsporadicandtype2neurofibromatosis-associated meningiomas and schwannomas. Neurology 2000; 54:71-76.
7. Niimura M. Neurofibromatosis. Rinsho Derma 1973; 15:653-663.
8. MacCollin M, Willett C, Heinrich B et al. Familial schwannomatosis: exclusion of the NF2 locus as the germline event. Neurology 2003; 60(12):1968-1974.
9. Ferner RE. The neurofibromatoses. Pract Neurol 2010; 10(2):82-93.
10. Riccardi VM. Neurofibromatosis: past, present and future. N Engl J Med 1991; 324(18):1283-1285.
11. Evans DG, Howard E, GiblinC et al. Birth incidence and prevalence of tumour prone syndromes: estimates from a UK genetic family register service. Am J Med Genet A 2010; 152A:327-332.
12. Evans DG, Baser ME, O'Reilly B et al. Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg 2005; 19:5-12.
13. Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol 2007; 6:340-351.
14. Mautner VF, Baser ME, Thakkar SD et al. Vestibular schwannoma growth inpatients with neurofibromatosis type 2: a longitudinal study. J Neurosurg 2002; 96:223-228.
15. Huang JH, Simon SL, Nagpal S et al. Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol 2004; 62:353-361.
16. MacCollin M, Woodfin W, Kronn D et al. Schwannomatosis-a clinical and pathologic study. Neurology 1996; 46:1072-1079.
17. Wolkenstein P, Benchikhi H, Zeller J et al. Schwannomatosis: a clinical entity distinct fromneurofibromatosis type 2. Dermatology 1997; 195:228-231.
18. Baser ME, Kuramoto L, Joe H et al. Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study. Am J Hum Genet 2004; 75(2):231-239.
19. MarchukDA, Saulino AM, Tavakkol R et al. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991; 4:931-940.
20. Rouleau GA, Merel P, Lutchman M et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature 1993; 363(6429):515-521.
21. Xie YG, Han FY, Peyrard M et al. Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. Hum MolGenet 1993; 2(9):1361-1368.
22. Trofatter JA, MacCollin MM, Rutter JL et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993; 72:791-800.
23. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68:820-823.
24. Biegel JA, Zhou JY, Rorke LB et al. Germ-line and acquired mutations of INU in atypical teratoid and rhabdoid tumors. Cancer Res 1999; 59:74-79.
25. Sevenet N, Sheridan E, Amram D et al. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 1999a; 65:1342-1348.
26. Fujisawa H, Takabatake Y, Fukusato T et al. Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification. J Neurooncol 2003; 63:257-262.
27. Kaufman DL, Heinrich BS, Willett C et al. Somatic instability of the NF2 gene in schwannomatosis. Arch Neurol 2003; 60:1317-1320.
28. CawthonRM, Weiss R,XuGFetal. A major segment ofthe neurofibromatosis type 1 gene: cDNA sequence, genomic structure andpointmutations. Cell 1990; 62(1):193-201.
29. Viskochil D, Buchberg AM, Xu G et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62(1):187-192.
30. Wallace MR, Marchuk DA, Andersen LB et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249(4965):181-186.
31. Bollag G, McCormick F. Ras regulation. NF is enough ofGAP. Nature 1992; 356:663-664.
32. Kluwe L, Friedrich R, Mautner VF. Loss of NF1 allele in Schwann cells but not in fibroblasts derived from anNF1-associatedneurofibroma. Genes Chromosomes Cancer 1999; 24:283-285.
33. Rutkowski JL, Wu K, GutmannDH et al. Genetic and cellular defects contributing to benign tumor formation in neurofibromatosis type 1. Hum Mol Genet 2000; 9:1059-1066.
34. Legius E, Marchuk DA, Collins FS et al. Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet 1993; 3:122-126.
35. Brown JA, Gianino SM, Gutmann DH. Defective cAMP generation underlies the sensitivity of CNS neurons toneurofibromatosis-1 heterozygosity. JNeurosci 2010; 30(16):5579-5589.
36. Warrington NM, Gianino SM, Jackson Eetal. Cyclic AMP suppressionis sufficient to induce gliomagenesis in a mouse model of neurofibromatosis-1. Cancer Res 2010; 70(14):5717-5727.
37. Hegedus B, Dasgupta B, Shin JE et al. Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell 2007; 1(4):443-457.
38. Lee DY, Yeh TH, Emnett RJ et al. Neurofibromatosis-1 regulates neuroglial progenitor proliferation and glial differentiation in a brain region-specific manner. Genes Dev 2010; 24(20):2317-2329.
39. Lee JS, Padmanabhan A, Shin J et al. Oligodendrocyte progenitor cell numbers and migration are regulated by the zebrafish orthologs ofthe NF1 tumor suppressor gene. Hum Mol Genet 2010; 19(23):4643-4653.
40. Staser K, Yang FC, Clapp DW. Plexiformneurofibroma genesis: questions of Nf1 gene dose and hyperactive mast cells. Curr Opin Hematol 2010; 17(4):287-293.
41. Chai G, Liu N, Ma J et al. MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1. Cancer Sci 2010.
42. Sun CX, Haipek C, Scoles DR et al. Functional analysis of the relationship between the neurofibromatosis 2 tumor suppressor and its binding partner, hepatocyte growth factor-regulated tyrosine kinase substrate. Hum Mol Genet 2002; 11(25):3167-3178.
43. Ramesh V. Merlin and the ERM proteins in Schwann cells, neurons and growth cones. Nat Rev Neurosci 2004; 5(6):462-470.
44. Lutchman M, Rouleau GA. The neurofibromatosis type 2 gene product, schwannomin, suppresses growth ofNIH 3T3 cells. Cancer Res 1995; 55(11):2270-2274.
45. McClatcheyAI,Saotome I, Ramesh Vetal. Genes Dev 1997; 11(10):1253-1265.
46. The Nf2 tumor suppressor gene product is essential for extraembryonic development immediately prior to gastrulation. Genes Dev 1997; 11(10):1253-1265.
47. Sherman L, Xu HM, Geist RT et al. Interdomain binding mediates tumor growth suppression by the NF2 geneproduct. Oncogene 1997; 15(20):2505-2509.
48. Ikeda K, Saeki Y, Gonzalez-Agosti C et al. Inhibition of NF2-negative and NF2-positive primary human meningioma cell proliferation by overexpression of merlin due to vector-mediated gene transfer. JNeurosurg 1999; 91(1):85-92.
49. Fraenzer JT, Pan H, Minimo L Jr et al. Overexpression ofthe NF2 gene inhibits schwannoma cell proliferation through promoting PDGFR degradation. Int J Oncol 2003; 23(6):1493-1500.
50. Xiao GH, Gallagher R, Shetler J et al. The NF2 tumor suppressor gene product, merlin, inhibits cell proliferation and cell cycle progression by repressing cyclin D1 expression. Mol Cell Biol 2005; 25(6):2384-2394.
51. Shaw RJ, Paez JG, Curto M et al. The Nf2 tumor suppressor, merlin, functions in Rac-dependent signaling. DevCell2001; 1(1):63-72.
52. Kissil JL, Wilker EW, Johnson KC et al. Merlin, the product of the Nf2 tumor suppressor gene, is an inhibitor ofthe p21-activated kinase, Pak1. Mol Cell 2003; 12:841-849.
53. Chadee DN, Xu D, Hung G et al. Mixed-lineage kinase 3 regulates B-Raf through maintenance of the B-Raf/Raf-1 complex and inhibition by the NF2 tumor suppressor protein. Proc Natl Acad Sci USA 2006; 103(12):4463-4468.
54. Morrison H, Sperka T, Manent J et al. Merlin/neurofibromatosis type 2 suppresses growth by inhibiting the activation ofRas and Rac. Cancer Res 2007; 67(2):520-527.
55. Z Zender L, Spector MS, Xue W et al. Identification and validation of oncogenes in liver cancer using an integrative oncogenomic approach. Cell 2006; 125(7):1253-1267.
56. Dong J, Feldmann G, Huang J et al. Elucidation of a universal size-control mechanism in Drosophila and mammals. Cell2007; 130(6):1120-1133.
57. Zhou D, Conrad C, Xia F et al. Mst1 and Mst2 maintain hepatocyte quiescence and suppress hepatocellular carcinoma development through inactivation of the Yap1 oncogene. Cancer Cell 2009; 16(5):425-438.
58. Zhang N, Bai H, David KK et al. The Merlin/NF2 tumor suppressor functions through the YAP oncoprotein to regulate tissue homeostasis in mammals. Dev Cell 2010; 19(1):27-38.
59. Lu L, Li Y, Kim SM et al. Hippo signaling is a potent in vivo growth and tumor suppressor pathway in the mammalian liver. Proc Natl Acad Sci USA 2010;107(4):1437-1442.
60. Song H, Mak KK, Topol L et al. Mammalian Mst1 and Mst2 kinases play essential roles in organ size control and tumor suppression. Proc Natl Acad Sci USA 2010; 107(4):1431-1436.
61. Zhan Y, Modi N, Stewart AM et al. Regulation of mixed lineage kinase 3 is required for Neurofibromatosis-2-mediated growth suppression in human cancer. Oncogene 2010.
62. Benhamouche S, Curto M, Saotome I et al. Nf2/Merlin controls progenitor homeostasis and tumorigenesis inthe liver. Genes Dev 2010; 24(16):1718-1730.
63. Cole BK, Curto M, Chan AW et al. Localization to the cortical cytoskeleton is necessary for Nf2/merlin-dependent epidermal growth factor receptor silencing. Mol Cell Biol 2008; 28(4):1274-1284.
64. James MF, Han S, Polizzano C et al. NF2/merlin is a novel negative regulator of mTOR complex 1 and activation of mTORC1 is associated with meningioma and schwannoma growth. Mol Cell Biol 2009; 29(15):4250-4261.
65. Li W, You L, Cooper J et al. Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4 (DCAF1) in the nucleus. Cell 2010; 140(4):477-490.
66. Hulsebos TJ, Plomp AS, Wolterman RA et al. Am J Hum Genet 2007; 80(4):805-810.
67. Zhang ZK, Davies KP, Allen J et al. Cell cycle arrest and repression of cyclin D1 transcription by INI1/hSNF5. Mol Cell Biol 2002; 22(16):5975-8859.
68. Tsikitis M, Zhang Z, Edelman W et al. Genetic ablation of Cyclin D1 abrogates genesis of rhabdoid tumors resulting from Ini1 loss. Proc NatlAcad Sci USA 2005; 102(34):12129-12134.
69. Fujisawa H, Misaki K, Takabatake Y et al. Cyclin D1 is overexpressed in atypical teratoid/rhabdoid tumor with hSNF5/INI1 gene inactivation. J Neurooncol 2005; 73(2):117-124.
70. Baser ME, Friedman JM, Wallace AJ et al. Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology 2002; 59(11):1759-1765.
71. Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 2006; 66(5):730-732.
72. MacCollin M, Chiocca EA, Evans DG et al. Diagnostic criteria for schwannomatosis. Neurology 2005; 64(11):1838-1845.
73. Harris GJ, PlotkinSR, MaccollinM et al. Three-dimensional volumetrics fortracking vestibular schwannoma growth in neurofibromatosis type II. Neurosurgery 2008; 62(6):1314-1319.
74. Colletti V. Auditory outcomes in tumor vs nontumor patients fitted with auditory brainstem implants. Adv Otorhinolaryngol 2006; 64:167-185.
75. Plotkin SR, Stemmer-Rachamimov AO, Barker FG 2nd et al. Hearing improvement after bevacizumab in patients with neurofibromatosis type 2. N Engl J Med 2009; 361(4):358-367.
76. Baser ME, Friedman JM, Aeschliman D et al. Predictors ofthe risk of mortality in neurofibromatosis 2. Am J Hum Genet 2002; 71(4):715-723.
77. Messiaen LM, Callens T, Mortier G et al. Exhaustive mutation analysis ofthe NF1 gene allows identi-fication of 95% ofmutationsandrevealsahigh frequency ofunusual splicing defects. HumMutat 2000; 15(6):541-555.
78. Spits C, De Rycke M, Van Ranst N et al. Preimplantation genetic diagnosis for neurofibromatosis type 1. MolHumReprod2005; 11(5):381-387.
79. Moyhuddin A, Baser ME, Watson C et al. Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring. J Med Genet 2003; 40(6):459-463.