Tuberous sclerosis-associated renal cell carcinoma: Clinical, pathological, and genetic features

American Journal of Pathology

Volumn 149, Issue 4, 1996, Pages 1201-1208

  Bjornsson, Johannes ^a   Short, M Priscilla ^b   Kwiatkowski, David J ^c   Henske, Elizabeth Petri ^c,d  

^a MAYO CLINIC   (United States)

^b UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d FOX CHASE CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CHROMOSOME 16P; CHROMOSOME 9Q; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; HUMAN; HUMAN TISSUE; KIDNEY CARCINOMA; PRIORITY JOURNAL; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

ADULT; CARCINOMA, RENAL CELL; FEMALE; HETEROZYGOTE DETECTION; HUMANS; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; TUBEROUS SCLEROSIS;

EID: 0029834567     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (36)

1. Gomez M: Tuberous Sclerosis, New York, Raven Press, 1988
2. Povey S Armour J, Farndon P, Haines J, Knowles M, Olopade F, Pilz A, White J, Kwiatkowski, D: Report on 3rd International Chromosome 9 Workshop. Ann Hum Genet 1994, 58:177-250
3. European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993, 75:1305-1315
4. Henske E, Ozelius L, Gusella J, Haines J, Kwiatkowski D: A high resolution linkage map of human 9q34.1. Genomics 1993, 17:587-591
5. Henske E, Kwiatkowski D: A 5.4 megabase continuous pulse-field gel electrophoresis map of human 9q34.1 between ABL and D9S114, including the tuberous sclerosis (TSC1) region. Genomics 1995, 28:105-108
6. Green A, Smith M, Yates J: Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nature Genet 1994, 6:193-196
7. Henske E, Neumann H, Scheithauer B, Herbst E, Short M, Kwiatkowski D: 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
8. Green A, Johnson P, Yates J: The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994, 3:1833-1834
9. Carbonara C, Longa L, Grosso E, Borrone C, Garre M, Brisigotti 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
10. Knudson, AGJ: Mutation and cancer: statistical study of retinoblastoma Proc Natl Acad Sci 1971, 68:820-823
11. Ahuja S, Loffler W, Wegener O-H, Ernst H: Tuberous sclerosis with angiomyolipoma and metastasized hypernephroma. Urology 1986, 28:413-419
12. Robbins T, Bernstein J: Renal involvement. Tuberous Sclerosis. Edited by M Gomez. New York, Raven Press, 1988, pp 133-146
13. Graves N, Barnes W: Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report. J Urol 1986, 135:122-123
14. Ilgren E, Westmoreland D: Tuberous sclerosis: unusual associations in four cases. J Clin Pathol 1984, 37:272-278
15. 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. Nature Genet 1995, 9:70-74
16. Yeung R, Xiao G-H, Jin F, Lee W-C, Testa J, Knudson A: 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
17. Eker R: Familial renal adenomas in Wistar rats. Acta Pathol Microbiol Scand 1954, 34:554-562
18. Cairns P, Tokino K, Eby Y, Sidransky D: Localization of tumor suppressor loci on chromosome 9 in primary human renal cell carcinomas. Cancer Res 1995, 55: 224-227
19. Kwiatkowski D, Henske E, Weimer K, Ozelius L, Gusella J, Haines J: Construction of a GT polymorphism map of human 9q. Genomics 1992, 12:229-240
20. 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
21. Kwiatkowski D, Diaz M: Dinucleotide repeat polymorphism at the IFNA locus (9p22). Hum Mol Genet 1992, 1:658
22. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseiz G, Lathrop M: A second-generation linkage map of the human genome. Nature 1992, 359:794-801
23. Naylor S, Buys C, Carritt B: Report of the Fourth International Workshop on Human Chromosome 3 Mapping. Cytogenet Cell Genet 1994, 65:2-50
24. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J: The 1993-94 Genethon human genetic linkage map. Nature Genet 1994, 7:246-311
25. Murphy W, Beckwith J, Farrow G: Tumors of the kidney, bladder, and related urinary structures. Atlas of Tumor Pathology. Washington, DC, Armed Forces Institute of Pathology, 1993, pp 92-118
26. Washecka R, Hanna M: Malignant renal tumors in tuberous sclerosis. Urology 1991, 37:340-343
27. Farrow G, Harrison E, Utz D: Sarcomas and the sarcomatoid and mixed malignant tumors of the kidney in adults. Cancer 1968, 22:556-563
28. Kapur R, Bigler S, Skelly M, Gown A: Anti-melanoma monoclonal antibody HMB-45 identifies an oncofetal glycoconjugate associated with immature melanosomes. J Histochem Cytochem 1992, 40:207-212
29. Bjornsson J, Nascimento A, Gulino S: The expression of neural crest-associated markers in normal kidney and renal angiomyolipomas and carcinomas in patients with and without tuberous sclerosis. Mod Pathol 1995, 8(1):72A
30. Morita R, Saito S, Ishikawa J, Ogawa O, Yoshida O, Yamakawa K, Nakamura Y: Common regions of deletion on chromosomes 5q, 6q, and 10q in renal cell carcinoma. Cancer Res 1991, 51:5817-5820
31. Kovacs G, Frisch S: Clonal chromosome abnormalities in tumor cells from patients with sporadic renal cell carcinomas. Cancer Res 1989, 49:651-659
32. Thrash-Bingham CA, Greenberg RE, Howard S, Bruzel A, Bremer M, Goll A, Salazar H, Freed JJ, Tartof KD: Comprehensive allelotyping of human renal cell carcinomas using microsatellite DNA probes. Proc Natl Acad Sci USA 1995, 92:2854-2858
33. Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek M, Crossey P, Richards F, Cairns P, Affara N, Ferguson-Smith M, Buys C, Maher E: Somatic mutations of the von Hippel-Lindau disease tumor suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 1994, 3:2169-2173
34. Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, Nagashima Y, Kitamura H, Latif F, Zbar B, Lerman MI, Yao M: Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res 1994, 54:2852-2855
35. Foster K, Crossey P, Cairns P, Hetherington J, Richards F, Jones M, Bentley E, Affara N, Ferguson-Smith M, Maher E: Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17, and 22. Br J Cancer 1994, 69:230-234
36. Fearon E, Vogelstein B: A genetic model for colorectal tumorigenesis. Cell 1990, 61:759-767