Loss of tuberin in both subependymal giant cell astrocytomas and angiomyolipomas supports a two-hit model for the pathogenesis of tuberous sclerosis tumors

American Journal of Pathology

Volumn 151, Issue 6, 1997, Pages 1639-1647

  Henske, Elizabeth Petri ^a   Wessner, Lisa L ^a   Golden, Jeffrey ^b   Scheithauer, Bernd W ^c   Vortmeyer, Alexander O ^d   Zhuang, Zhengping ^d   Klein Szanto, Andres J P ^a   Kwiatkowski, David J ^e   Yeung, Raymond S ^a,f  

^a FOX CHASE CANCER CENTER   (United States)

^b CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^c MAYO CLINIC   (United States)

^d NATIONAL CANCER INSTITUTE   (United States)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; TUBERIN; UNCLASSIFIED DRUG;

ANGIOMYOLIPOMA; ARTICLE; ASTROCYTOMA; BRAIN TUMOR; CHROMOSOME 16P; CONTROLLED STUDY; EPITHELIOID CELL; GIANT CELL TUMOR; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; KIDNEY TUMOR; MENTAL DEFICIENCY; PRIORITY JOURNAL; SEIZURE; SPINDLE CELL; TUBEROUS SCLEROSIS;

ANGIOMYOLIPOMA; ANIMALS; ANTIBODY SPECIFICITY; BRAIN NEOPLASMS; GLIOMA; HUMANS; IMMUNOENZYME TECHNIQUES; KIDNEY NEOPLASMS; MODELS, BIOLOGICAL; RATS; RATS, MUTANT STRAINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0030725540     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (43)

1. Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP: Tuberous sclerosis-associated renal cell carcinoma: clinical, pathologic, and genetic features. Am J Pathol 1996, 149:1201-1208
2. Buki A, Horvath Z, Kover F, Veto F, Doczi T: Occlusive hydrocephalus complicating tuberous sclerosis - report of two cases. Eur J Neurol 1996, 3:255-259
3. Dirocco C, Iannelli A, Marchese E: On the treatment of subependymal giant cell astrocytomas and associated hydrocephalus in tuberous sclerosis. Pediatr Neurosurg 1995. 23:115-120
4. Shepherd CW, Scheithauer BW, Gomez MR, Altermatt HJ, Katzmann JA: Subependymal giant cell astrocytoma: a clinical, pathological, and flow cytometric study. Neurosurgery 1991, 28.864-868
5. Shepherd CW, Gomez MR, Lie JT: Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991, 66:792-796
6. Hirose T, Scheithauer BW, Lopes MBS, Gerber HA, Altermart HJ, Hukee MJ, Vandenberg SR, Charlesworth JC: Tuber and subependymal giant cell astrocyloma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron microscopic study. Acta Neuropathol 1995, 90:387-399
7. Lopes MBS, Altermatt HJ, Scheithauer BW, Shepherd CW, VandenBerg SR: Immunohistochemical characterization of subependymal giant cell astrocytomas. Acta Neuropathol 1996, 91:368-375
8. Bernstein J, Robbins TO: Renal involvement in tuberous sclerosis. Ann NY Acad Sci 1991, 615:36-49
9. Murphy WM, Beckwith JB, Farrow GM: Tumors of the kidney, bladder, and related urinary structures. Atlas of Tumor Pathology. Washington, DC, Armed Forces Institute of Pathology, 1994, pp 92-118
10. Povey S, Armour J, Farndon P, Haines JL, Knowles M, Olopade F, Pilz A, White JA, Kwiatkowski DJ: Report on 3rd International chromosome 9 workshop. Ann Hum Genet 1994, 58:177-250
11. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315
12. Geist RT, Gutmann DH: The tuberous sclerosis 2 gene is expressed at high levels in the cerebellum and developing spinal cord. Cell Growth Differ 1995, 6:1477-1483
13. Wienecke R, Maize JC, Reed J, deGunzburg J, Yeung RS, DeClue JE: Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues. Am J Pathol 1997, 150:43-50
14. Kerfoot C, Wienecke R, Menchine M, Emelin J, Maize JC, Welsh CT, Norman MG, DeClue JE, Vinters HV. Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesion of patients with tuberous sclerosis. Brain Pathol 1996, 6:367-377
15. Menchine M, Emelin JK, Mischel PS, Haag TA, Norman MH, Pepkowitz SH, Welsh CT, Townsend JT, Winters HV: Tissue and cell-type specific expression of the tuberous sclerosis gene, TSC2, in human tissues. Mod Pathol 1996, 9:1071-1080
16. Wienecke R, Konig A, DeClue JE: Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 1995, 270:16409-16414
17. Xiao GH, Shoarinejad F, Jin F, Golemis EA, Yeung RS: The tuberous sclerosis-2 gene product, tuberin, functions as a Rab5GAP in modulating endocytosis. J Biol Chem 1997, 272:6097-6100
18. van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer R, Munro C, Hawkins TL, Sepp T, Ali JBM, Ward S, Green AJ, Yates JRW, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ: Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34, Science 1997, 277:805-808
19. Green AJ, Smith M, Yates JRW: Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994, 6:193-196
20. Henske EP, Neumann HPH, Scheithauer BW, Herbst EW, Short MP, Kwiatkowski DJ: Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer 1995, 13:295-298
21. Green AJ, Johnson PH, Yates JRW: The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994, 3:1833-1834
22. Carbonara C, Longa L, Grosso E, Borrone C, Garre MG, Bhsigotti M, Bigone N: 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 1994, 3:1829-1832
23. Eker R: Familial renal adenomas in Wistar rats. Acta Pathol Microbiol Scand 1954, 34:554-562
24. Yeung RS, Katsetos CD, Klein-Szanto AJP: Subependymal astrocytic hamartomas in the Eker rat model of tuberous sclerosis. Am J Pathol 1997, 151:1477-1486
25. Kobayashi R, Hirayama Y, Kobayashi E, Kubo Y, Hino O: A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer. Nat Genet 1995, 9:70-74
26. Yeung RS, Xiao G-H, Jin F, Lee W-C, Testa JR, Knudson AG: Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis (TSC2) gene. Proc Natl Acad Sci USA 1994, 91:11413-11416
27. Kubo Y, Klimek F, Kikuchi Y, Bannasch P, Hino O: Early detection of Knudson's two-hits in preneoplastic renal cells of the Eker rat model by the laser microdissection procedure. Cancer Res 1995, 55:989-990
28. Yeung RS, Ziao G-H, Everitt J, Jin F, Walker C: Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors of the Eker rat. Mol Carcinogen 1995, 14:28-36
29. Jin F, Wienecke R, Ziao GH, Maize JC, DeClue JE, Yeung RS: Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (TSC2) gene and its C-terminal region. Proc Natl Acad Sci USA 1996, 93:9154-9159
30. Gomez MR: Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann NY Acad Sci 1991, 615:1-7
31. Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, vanSlegtenhorst M, Welsh CT, Kwiatkowski DJ: Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996, 59:400-406
32. Shen Y, Kozman HM, Thompson A, Phillips HA, Holman K, Nancarrow J, Lane S, Chen L-Z, Apostolou S, Doggett NA, Callen DF, Mulley JC, Sutherland GR, Richards RI: A PCR-based genetic linkage map of human chromosome 16. Genomics 1994, 22:68-76
33. Carbonara C, Longa L, Grosso E, Mazzuco G, Borrone C, Garre ML, Brisigotti M, Filippi Q, Scabar A, Giannotli A, Falzoni P, Monga G, Garini G, Gabrielli M, Riegler P, Danesino C, Ruggieri M, Magro G, Migone N: Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chromosomes Cancer 1996, 15:18-25
34. Short MP: Does tuberin function as a tumor suppressor in the cerebral lesions of tuberous sclerosis: early observations. Brain Pathol 1996, 6:375-376
35. Rodriguez JA, Au KS, Rodriguez E, Roach ES, Delgado MR, Northrup H: Mutations in the TSC2 gene in patients with tuberous sclerosis complex. Am J Hum Genet 1996, 59(Suppl):A1637
36. Sepp T, Yates JR, Green AJ: Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996, 33:962-964
37. Globus JH: Glioneuroma and spongioneuroblastoma, forms of primary neuroectodermal tumors of the brain. Am J Cancer 1938, 32: 163-220
38. Bonnin JM, Rubinstein LJ, Papasozomenos SC, Marangos PJ: Subependymal giant cell astrocytoma. Acta Neuropathol 1984, 62:185-193
39. Iwasaki Y, Yoshikawa H, Sasaka M, Sugai K, Suzuki H, Hirayama Y, Sakuragawa N, Arima M, Takashima S, Aoki N: Clinical and immunohistochemical studies of subependymal giant cell astrocytomas associated with tuberous sclerosis. Brain Dev 1990, 12: 478-481
40. Stefansson K, Wollmann R: Distribution of glial fibrillary acidic protein in central nervous system lesions of tuberous sclerosis. Acta Neuropathol 1980, 52:135-140
41. Stefansson K, Wollmann RL: Distribution of neuronal specific protein, 14-3-2, in central nervous system lesions of tuberous sclerosis. Acta Neuropathol 1981, 53:113-117
42. Huttenlocher PR, Wollmann RL: Cellular neuropathology of tuberous sclerosis. Ann NY Acad Sci 1991, 615:140-148
43. Mizuguchi M, Kato M, Yamanouchi H, Ikeda K, Takashima S: Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma. Ann Neurol 1996, 40:941-944