Abnormal giant cells in the cerebral lesions of tuberous sclerosis complex

Congenital Anomalies

Volumn 47, Issue 1, 2007, Pages 2-8

  Mizuguchi, Masashi ^a  

^a UNIVERSITY OF TOKYO   (Japan)

Author keywords

Balloon cell; Cell size; Cytomegalic neuron; Differentiation; Hamartin; Tuberin

Indexed keywords

HAMARTIN; TUBERIN;

BRAIN CORTEX; BRAIN DAMAGE; BRAIN NERVE CELL; CELL DIFFERENTIATION; CELL SIZE; DISEASE ASSOCIATION; DISEASE MODEL; DYSPLASIA; GIANT CELL; GROWTH REGULATION; HAMARTOMA; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; NEUROPATHOLOGY; NEUROPSYCHIATRY; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION; TUBEROUS SCLEROSIS;

ANIMALS; CELL DIFFERENTIATION; CELL SIZE; CEREBRAL CORTEX; GENES, TUMOR SUPPRESSOR; GIANT CELLS; HAMARTOMA; HUMANS; MODELS, ANIMAL; MODELS, BIOLOGICAL; TUBEROUS SCLEROSIS;

ANIMALIA;

EID: 33846807874     PISSN: 09143505     EISSN: 17414520     Source Type: Journal    
DOI: 10.1111/j.1741-4520.2006.00134.x     Document Type: Review

References (73)

1. Aicher LD, Campbell JS, Yeung RS (2001) Tuberin phosphorylation regulates its interaction with hamartin. Two proteins involved in tuberous sclerosis. J Biol Chem 276: 21017-21021.
2. Arai Y, Ackerley CA, Becker LE (1998) Loss of the TSC2 product tuberin in subependymal giant-cell tumors. Acta Neuropathol 98: 233-239.
3. Arseni C, Alexianu M, Horvat L, Alexianu D (1972) Fine structure of atypical cells in tuberous sclerosis. Acta Neuropathol 21: 185-193.
4. Bateman JM, McNeill H (2004) Temporal control of differentiation by the insulin receptor/tor pathway in Drosophila. Cell 119: 87-96.
5. Bender BL, Yunis EJ (1980) Central nervous system pathology of tuberous sclerosis in children. Ultrastruct Pathol 1: 287-299.
6. Bender BL, Yunis EJ (1982) The pathology of tuberous sclerosis. Pathol Annu 17: 339-382.
7. Brook-Carter PT, Peral B, Ward CJ et al. (1994) Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease - a contiguous gene syndrome. Nat Genet 8: 328-332.
8. Carbonara C, Longa L, Grosso E et al. (1994) 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 3: 1829-1832.
9. Castro AF, Rebhun JF, Clark GJ, Quilliam LA (2003) Rheb binds tuberous sclerosis complex 2 (TSC2) and promotes S6 kinase activation in a rapamycin-and farnesylation-dependent manner. J Biol Chem 278: 32493-32496.
10. Chou TM, Chou SM (1989) Tuberous sclerosis in the premature infant: A report of a case with immunohistochemistry on the CNS. Clin Neuropathol 8: 45-52.
11. Dan HC, Sun M, Yang L et al. (2002) Phosphatidylinositol 3-kinase/Akt pathway regulates tuberous sclerosis tumor suppressor complex by phosphorylation of tuberin. J Biol Chem 277: 35364-35370.
12. Gao X, Pan D (2001) TSC1 and TSC2 tumor suppressors antagonize insulin signaling in cell growth. Genes Dev 15: 1383-1392.
13. Garami A, Zwartkruis FJ, Nobukuni T et al. (2003) Insulin activation of Rheb, a mediator of mTOR/S6K/4E-BP signaling, is inhibited by TSC1 and 2. Mol Cell 11: 1457-1466.
14. Gomez MR (1999) Definition and criteria for diagnosis. In: Gomez MR (ed.). Tuberous Sclerosis Complex, 3rd edn. Oxford University Press, New York, pp. 10-23.
15. Green AJ, Smith M, Yates JR (1994) Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 6: 193-196.
16. Gutmann DH, Zhang Y, Hasbani MJ, Goldberg MP, Plank TL, Henske EP (2000) Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. Acta Neuropathol (Berl) 99: 223-230.
17. Henske EP, Scheithauer BW, Short MP et al. (1996) Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 59: 400-406.
18. Henske EP, Wessner LL, Golden J et al. (1997) Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors. Am J Pathol 151: 1639-1647.
19. Hino O, Mitani H, Katsuyama H, Kubo Y (1994) A novel cancer predisposition syndrome in the Eker rat model. Cancer Lett 83: 117-121.
20. Hirose T, Scheithauer BW, Lopes MBS et al. (1995) Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: An immunohistochemical, ultrastructural, and immunoelectron microscopic study. Acta Neuropathol 90: 387-399.
21. Inoki K, Li Y, Xu T, Guan KL (2003a) Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev 17: 1829-1834.
22. Inoki K, Li Y, Zhu T, Wu J, Guan KL (2002) TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 4: 648-657.
23. Inoki K, Ouyang H, Zhu T et al. (2006) TSC2 integrates Wnt and energy signals via a coordinated phosphorylation by AMPK and GSK3 to regulate cell growth. Cell 126: 955-968.
24. Inoki K, Zhu T, Guan KL (2003b) TSC2 mediates cellular energy response to control cell growth and survival. Cell 115: 577-590.
25. Ito N, Rubin GM (1999) gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle. Cell 96: 529-539.
26. Johnson MW, Emelin JK, Park S-H, Vinters HV (1999) Co-localization of TSC1 and TSC2 gene products in tubers of patients with tuberous sclerosis. Brain Pathol 9: 45-54.
27. Johnson MW, Kerfoot C, Bushnell T, Li M, Vinters HV (2001) Hamartin and tuberin expression in human tissues. Mod Pathol 14: 202-210.
28. Jones AC, Daniells CE, Snell RG et al. (1997) Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 6: 2155-2161.
29. Jones AC, Shyamsundar MM, Thomas MW et al. (1999) Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64: 1305-1315.
30. Kerfoot C, Wienecke R, Menchine M et al. (1996) Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. Brain Pathol 6: 367-377.
31. Kobayashi T, Hirayama Y, Kobayashi E, Kubo Y, Hino O (1995) A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat Genet 9: 70-74.
32. Kubo Y, Kikuchi Y, Mitani H, Kobayashi E, Kobayashi T, Hino O (1995) Allelic loss at the tuberous sclerosis (Tsc2) gene locus in spontaneous uterine leiomyosarcomas and pituitary adenomas in the Eker rat model. Jpn J Cancer Res 86: 828-832.
33. Kubo Y, Mitani H, Hino O (1994) Allelic loss at the predisposing gene locus in spontaneous and chemically induced renal cell carcinomas in the Eker rat. Cancer Res 54: 2633-2635.
34. Kwiatkowski DJ, Manning BD (2005) Tuberous sclerosis: A GAP at the crossroads of multiple signaling pathways. Hum Mol Genet 14: R251-R258.
35. Kwon CH, Zhu X, Zhang J et al. (2001) Pten regulates neuronal soma size: A mouse model of Lhermitte-Duclos disease. Nat Genet 29: 404-411.
36. Liaw D, Marsh DJ, Li J et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16: 64-67.
37. Manning BD, Tee AR, Logsdon MN, Blenis J, Cantley LC (2002) Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway. Mol Cell 10: 151-162.
38. Menchine M, Emelin JK, Mischel PS et al. (1996) Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. Mod Pathol 9: 1071-1080.
39. Mizuguchi M, Ikeda K, Takashima S (2000a) Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathol (Berl) 99: 503-510.
40. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S (1996) Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 40: 941-944.
41. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S (1997) Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis. Acta Neuropathol (Berl) 94: 525-531.
42. Mizuguchi M, Mori M, Nozaki Y et al. (2004) Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis. Acta Neuropathol (Berl) 107: 47-52.
43. Mizuguchi M, Takashima S (2001) Neuropathology of tuberous sclerosis. Brain Dev 23: 508-515.
44. Mizuguchi M, Takashima S, Yamanouchi H, Nakazato Y, Mitani H, Hino O (2000b) Novel cerebral lesions in the Eker rat model of tuberous sclerosis: Cortical tuber and anaplastic ganglioglioma. J Neuropathol Exp Neurol 59: 188-196.
45. Mizuguchi M, Yamanouchi H, Becker LE, Itoh M, Takashima S (2002) Doublecortin immunoreactivity in giant cells of tuberous sclerosis and focal cortical dysplasia. Acta Neuropathol (Berl) 104: 418-424.
46. Niida Y, Stemmer-Rachamimov AO, Logrip M et al. (2001) Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet 69: 493-503.
47. Pan D, Dong J, Zhang Y, Gao X (2004) Tuberous sclerosis complex: From Drosophila to human disease. Trends Cell Biol 14: 78-85.
48. Potter CJ, Huang H, Xu T (2001) Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size. Cell 105: 357-368.
49. Potter CJ, Pedraza LG, Huang H, Xu T (2003) The tuberous sclerosis complex (TSC) pathway and mechanism of size control. Biochem Soc Trans 31: 584-586.
50. Potter CJ, Pedraza LG, Xu T (2002) Akt regulates growth by directly phosphorylating Tsc2. Nat Cell Biol 4: 658-665.
51. Richardson EP Jr (1991) Pathology of tuberous sclerosis. Neuropathologic aspects. Ann NY Acad Sci 615: 128-139.
52. Saucedo LJ, Gao X, Chiarelli DA, Li L, Pan D, Edgar BA (2003) Rheb promotes cell growth as a component of the insulin/TOR signalling network. Nat Cell Biol 5: 566-571.
53. Scanga SE, Ruel L, Binari RC et al. (2000) The conserved PI3′K/PTEN/ Akt signaling pathway regulates both cell size and survival in Drosophila. Oncogene 19: 3971-3977.
54. Scheidenhelm DK, Gutmann DH (2004) Mouse models of tuberous sclerosis complex. J Child Neurol 19: 726-733.
55. Sepp T, Yates JR, Green AJ (1996) Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 33: 962-964.
56. Shaw RJ, Bardeesy N, Manning BD et al. (2004) The LKB1 tumor suppressor negatively regulates mTOR signaling. Cancer Cell 6: 91-99.
57. van Slegtenhorst M, de Hoogt R, Hermans C et al. (1997) Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277: 805-808.
58. van Slegtenhorst M, Nellist M, Nagelkerken B et al. (1998) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet 7: 1053-1057.
59. Sofer A, Lei K, Johannessen CM, Ellisen LW (2005) Regulation of mTOR and cell growth in response to energy stress by REDD1. Mol Cell Biol 25: 5834-5845.
60. Soucek T, Holzl G, Bernaschek G, Hengstschlager M (1998) A role of the tuberous sclerosis gene-2 product during neuronal differentiation. Oncogene 16: 2197-2204.
61. Soucek T, Pusch O, Wienecke R, DeClue JE, Hengstschlager M (1997) Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase. J Biol Chem 272: 29301-29308.
62. Stocker H, Radimerski T, Schindelholz B et al. (2003) Rheb is an essential regulator of S6K in controlling cell growth in Drosophila. Nat Cell Biol 5: 559-565.
63. Tapon N, Ito N, Dickson BJ, Treisman JE, Hariharan IK (2001) The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. Cell 105: 345-355.
64. Tavazoie SF, Alvarez VA, Ridenour DA, Kwiatkowski DJ, Sabatini BL (2005) Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat Neurosci 8: 1727-1734.
65. Tee AR, Manning BD, Roux PP, Cantley LC, Blenis J (2003) Tuberous sclerosis complex gene products, Tuberin and Hamartin, control mTOR signaling by acting as a GTPase-activating protein complex toward Rheb. Curr Biol 13: 1259-1268.
66. The European Chromosome 16 Tuberous Sclerosis Consortium (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome 16 Tuberous Sclerosis. Cell 75: 1305-1315.
67. Trombey IK, Mirra SS (1988) Ultrastructure of tuberous sclerosis: Cortical tuber and subependymal tumor. Ann Neurol 9: 174-181.
68. Yamanouchi H, Jay V, Rutka JT, Takashima S, Becker LE (1997) Evidence of abnormal differentiation in giant cells of tuberous sclerosis. Pediatr Neurol 17: 49-53.
69. Yeung RS (2004) Lessons from the Eker rat model: From cage to bedside. Curr Mol Med 4: 799-806.
70. Yeung RS, Katsetos CD, Klein-Szanto A (1997) Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. Am J Pathol 151: 1477-1486.
71. Zhang Y, Gao X, Saucedo LJ, Ru B, Edgar BA, Pan D (2003) Rheb is a direct target of the tuberous sclerosis tumour suppressor proteins. Nat Cell Biol 5: 578-581.
72. Zhang H, Nanba E, Yamamoto T et al. (1999) Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex. J Hum Genet 44: 391-396.
73. Zhou XP, Marsh DJ, Morrison CD et al. (2003) Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 73: 1191-1198.