Tuberin and hamartin expression is reduced in the majority of subependymal giant cell astrocytomas in tuberous sclerosis complex consistent with a two-hit model of pathogenesis

Journal of Child Neurology

Volumn 19, Issue 2, 2004, Pages 102-106

  Jóźwiak, Sergiusz ^a   Kwiatkowski, David ^b   Kotulska, Katarzyna ^c   Larysz Brysz, Magdalena ^c   Lewin Kowalik, Joanna ^c   Grajkowska, Wiesława ^a   Roszkowski, Marcin ^a  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

HAMARTIN; TUBERIN;

ARTICLE; ASTROCYTOMA; AUTOSOMAL DOMINANT DISORDER; BENIGN TUMOR; BRAIN TUMOR; CLINICAL ARTICLE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE MODEL; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GERM LINE; GIANT CELL TUMOR; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MORBIDITY; MORTALITY; NONSENSE MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SUBEPENDYMOMA; TUBEROUS SCLEROSIS; TUMOR GROWTH;

EID: 18244425903     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738040190020401     Document Type: Article

References (38)

1. Gomez M, Sampson J, Whittemore V: The Tuberous Sclerosis Complex. Oxford, UK, Oxford University Press, 1999.
2. Curatolo P, Verdecchia M, Bombardieri R: Tuberous sclerosis complex: A review of neurological aspects. Eur J Paediatr Neurol 2002;6:15-23.
3. Kim SK, Wang KC, Cho BK, et al: Biological behavior and tumorigenesis of subependymal giant cell astrocytomas. J Neurooncol 2001;52:217-225.
4. European Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-1315.
5. van Slegtenhorst M, de Hoogt R, Hermans C, et al: Identification of the tuberous sclerosis gene TSC1 on chrosome 9q34. Science 1997;227:805-808.
6. Smith M: Mapping of the tuberous sclerosis genes. Int J Neurol 1991-1992;25-26:81-88.
7. Gutmann D, Zhang Y, Hasbani M, et al: Expression of the tuberous sclerosis complex gene products, hamartin and tuberin, in central nervous system tissues. Acta Neuropathol (Berl) 2000; 99:223-230.
8. Johnson M, Kerfoot C, Bushnell T, et al: Hamartin and tuberin expression in human tissues. Mod Pathol 2001;14:202-210.
9. Yamamoto Y, Jones K, Mak B, et al: Multicompartmental distribution of the tuberous sclerosis gene products, hamartin and tuberin. Arch Biochem Biophys 2002;404:210-217.
10. Hengstschlager M, Rodman D, Miloloza A, et al: Tuberous sclerosis gene products in proliferation control. Mutat Res 2001; 488:233-239.
11. Miloloza A, Rosner M, Nellist M, et al: The TSC1 gene product, hamartin, negatively regulates cell proliferation. Hum Mol Genet 2000;9:1721-1727.
12. Miloloza A, Kubista M, Rosner M, Hengstschlager M: Evidence for separable functions of tuberous sclerosis gene products in mammalian cell cycle regulation. J Neuropathol Exp Neurol 2002;61:154-163.
13. Tapon N, Ito N, Dickinson B et al: The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation. Cell 2001;105:345-355.
14. Tee AR, Fingar DC, Manning BD, et al: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammaliam target of rapamycin (mTOR)-mediated downstream signalling. Proc Natl Acad Sci U S A 2002;99:14152-14157.
15. Gao X, Zhang Y, Arazzola P, et al: Tsc tumor supressor proteins antagonize amino-acid-TOR signalling. Nat Cell Biol 2002; 2:199-204.
16. Soucek T, Pusch O, Wienecke R, et al: 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 1997;272:29301-29308.
17. Henske EP, Wessner LL, Golden J, et al: 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 1997;151:1639-1647.
18. Henske EP, Scheithauer BW, Short MP, et al: Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996;59:400-406.
19. Jóźwiak S, Dabora S, Kasprzyk-Obara J, et al: Loss of heterozygosity in tuberous sclerosis. Przeglad Lekarski 2001;58:12-15.
20. Mizuguchi M, Ikeda K, Takashima S: Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis. Acta Neuropathol (Berl) 2000;99:503-510.
21. Mizuguchi M, Kato M, Yamanouchi H, et al: Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis. Acta Neuropathol (Berl) 1997;94:525-531.
22. Mizuguchi M, Kato M, Yamanouchi H, et al: Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 1996;40:941-944.
23. Mizuguchi M, Takashima S: Neuropathology of tuberous sclerosis. Brain Dev 2001;23:508-515.
24. Arai Y, Ackerley C, Becker L: Loss of the TSC2 product tuberin in subependymal giant cells tumors. Acta Neuropathol (Berl) 1999;98:233-239.
25. Kerfoot C, Wienecke R, Menchine M, et al: 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 1996;6:367-375.
26. Dabora S, Jóźwiak S, Franz DN, et al: Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2 compared with TSC1 disease in multiple organs. Am J Hum Genet 2001;68:64-80.
27. Dabora SL, Nieto A, Jóźwiak S, et al: Identification and characterization of 6 large (1.3 kb-39 kb) deletions in TSC2 using long range PCR suggests diverse mechanisms including Alu-mediated recombination. J Med Genet 2000;37:877-882.
28. Murthy V, Haddad L, Smith N, et al: Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney. Am J Physiol Renal Physiol 2000;278:737-746.
29. Murthy V, Stemmer-Rachamimov A, Haddad L, et al: Developmental expression of the tuberous sclerosis proteins tuberin and hamartin. Acta Neuropathol (Berl) 2001;101:202-210.
30. Vinters H, Kerfoot C, Catania M, et al: Tuberous sclerosis-related gene expression in normal and dysplastic brain. Epilepsy Res 1998;32:12-23.
31. Becker AJ, Lobach M, Klein H, et al: Mutational analysis of TSC1 and TSC2 genes in gangliogliomas. Neuropathol Appl Neurol 2001;27:105-114.
32. Gutmann D, Saporito-Irwin S, De Clue JE, et al: Alterations in the rap1 signaling pathway are common in human gliomas. Oncogene 1997;15:1611-1616.
33. Jóźwiak S, Schwartz RA, Krysicka-Janniger C, Bielicka-Cymerman J: Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol 2000;15:652-659.
34. Langkau N, Martin N, Brandt R, et al: TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios. Eur J Pediatr 2002;161:393-402.
35. Onda H, Lueck A, Marks PW, et al: TSC2+/- mice develop tumors in multiple sites that express gelsolin and are influenced by genetic background. J Clin Invest 1999;104:687-695.
36. Kwiatkowski DJ, Zhang H, Bandura J, et al: A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in TSC1 null cells. Hum Mol Genet 2002;11:525-534.
37. Uhlmann EJ, Wong M, Baldwin R, et al: Astrocyte-specific TSC1 conditional knockout mice exhibit abnormal neuronal organization and seizures. Ann Neurol 2002;52:285-296.
38. Yeung RS, Katsetos CD, Klein-Szanto A: Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. Am J Pathol 1997;151:1477-1486.