Malignant tumors of the kidney, brain, and soft tissues in children and young adults with the tuberous sclerosis complex

Cancer

Volumn 83, Issue 10, 1998, Pages 2208-2216

  Al Saleem, Tahseen ^a   Wessner, Lisa L ^a   Scheithauer, Bernd W ^b   Patterson, Kathleen ^c   Roach, E Steven ^d   Dreyer, Stephen J ^e   Fujikawa, Keita ^f   Bjornsson, Johannes ^b   Bernstein, Jay ^g   Henske, Elizabeth Petri ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b MAYO CLINIC   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF TEXAS AT DALLAS   (United States)

^e Fremont Medical Associates   (United States)

^f KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^g William Beaumont Research Institute   (United States)

Author keywords

Angiomyolipoma; Glioblastoma; Renal cell carcinema; Tuberous sclerosis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRAIN CANCER; CANCER DIAGNOSIS; CANCER RISK; CHILDHOOD CANCER; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA DETERMINATION; FEMALE; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; INFANT; KIDNEY CANCER; MALE; PATHOGENESIS; PRIORITY JOURNAL; SCHOOL CHILD; SOFT TISSUE CANCER; TUBEROUS SCLEROSIS;

ADULT; ANGIOMYOLIPOMA; BRAIN NEOPLASMS; CARCINOMA, RENAL CELL; CHILD; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 3; CHROMOSOMES, HUMAN, PAIR 9; FEMALE; GENETIC MARKERS; GLIOBLASTOMA; HUMANS; INFANT; KIDNEY NEOPLASMS; LOSS OF HETEROZYGOSITY; MALE; NEOPLASM PROTEINS; NEOPLASMS, MULTIPLE PRIMARY; TUBEROUS SCLEROSIS;

EID: 15444359557     PISSN: 0008543X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0142(19981115)83:10<2208::AID-CNCR21>3.0.CO;2-K     Document Type: Article

References (42)

1. Gomez MR. Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria. Ann N Y Acad Sci 1991;615(1):1-7.
2. Washecka R, Hanna M. Malignant renal tumors in tuberous sclerosis. Urology 1991;37:340-3.
3. Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosis-associated renal cell carcinoma: clinical, pathologic, and genetic features. Am J Pathol 1996;149: 1201-8.
4. Pea M, Bonetti G, Martignoni E, Henske E, Manfrin E, Colato C, et al. Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 1998;22:180-7.
5. Bacchi CE, Bonetti F, Pea M, Martignoni G, Gown AM. HMB-45: a review. Appl Immunohistochem 1996;4:73-85.
6. Bjornsson J, Nascimento AG, Gulino SP. 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):73A.
7. European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993;75:1305-15.
8. Wienecke R, Konig A, DeClue JE. Identification of tuberin, the tuberous sclerosis-2 product. J Biol Chem 1995;270: 16409-14.
9. 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: 6097-100.
10. Van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997;277: 805-8.
11. Green AJ, Smith M, Yates JRW. Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet 1994;6:193-6.
12. 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 Chromosom Cancer 1995;13: 295-8.
13. Green AJ, Johnson PH, Yates JRW. The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet 1994;3:1833-4.
14. Carbonara C, Longa L, Grosso E, Borrone C, Garre MG, Brisigotti M, et al. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet 1994;3:1829-32.
15. Zoller MET, Rembeck B, Oden A, Samuelsson M, Angervall L. Malignant and benign tumors in patients with neurofibromatosis 1 in a defined Swedish population. Cancer 1997; 79:2125-31.
16. Henske EP, Scheithauer BW, Short MP, Wollmann R, Nahmias J, Hornigold N, et al. Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. Am J Hum Genet 1996;59:400-6.
17. Henske EP, Ozelius L, Gusella JF, Haines JL, Kwiatkowski DJ. A high resolution linkage map of human 9q34.1. Genomics 1993;17:587-91.
18. Shen Y, Kozman HM, Thompson A, Phillips HA, Holman K, Nancarrow J, et al. A PCR-based genetic linkage map of human chromosome 16. Genomics 1994;22:68-76.
19. Henske EP, Kwiatkowski DJ. Human microsatellite repeat markers and their application to analysis of clonality and allelic loss in tumors. In: Adolph KW, editor. Human Genome Methods. Boca Raton, FL: CRC Press, 1998:3-21.
20. Aoyama T, Fujikawa K, Yoshimura K, Sasaki M, Itoh T. Bilateral renal cell carcinoma in a patient with tuberous sclerosis, Int J Urol 1996;3:150-1.
21. Robertson FM, Cendron M, Klauber GT, Harris BH. Renal cell carcinoma in association with tuberous sclerosis in children. J Pediatr Surg 1996;31:729-30.
22. Weinblatt ME, Kahn E, Kochen J. Renal cell carcinoma in patients with tuberous sclerosis. Pediatrics 1987;80:898.
23. Taylor RS, Joseph DB, Kohaut EC, Wilson ER, Bueschen AJ. Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis. J Urol 1989;141:930-2.
24. Mai KT, Perkins DG, Collins JP. Epithelioid cell variant of renal angiomyolipoma. Histopatholology 1996;28:277-80.
25. Eble JN, Amin MB, Young RH. Epithelioid angiomyolipoma of the kidney: a report of five cases with a prominent and diagnostically confusing epithelioid smooth muscle component. Am J Surg Pathol 1997;21:1123-30.
26. DeLong W, Grignon DJ, Eberwein P, Shum DT, Wyatt JK. Sarcomatoid renal cell carcinoma: an immunohistochemical study of 18 cases. Arch Pathol Lab Med 1993;117:636-40.
27. Schmidt L, Duh F-H, Chen F, Kishida T, Glenn G, Choyke P, et al. Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet 1997;16:68-73.
28. Latif F, Tory K, Gnarra X, Yao X, Duh F-M, Orcutt ML, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993;260:1317-20.
29. Poston CD, Jaffe GS, Lubensky IA, Solomon, Zbar B, Linehan WM, et al. Characterization of the renal pathology of a familial form of renal cell carcinoma associated with von Hippel-Lindau disease: clinical and molecular genetic implications. J Urol 1995;153:22-6.
30. Nelson JB, Oyasu R, Dalton DP. The clinical and pathological manifestations of renal tumors in von Hippel-Lindau disease. J Urol 1994;152:2221-6.
31. Padmalatha C, Harruff RC, Ganick D, Hafez GB. Glioblastoma multiforme with tuberous sclerosis. Report of a case. Arch Pathol Lab Med 1980;104:649-50.
32. Wienecke R, Guha A, Maize JC, Heideman RL, DeClue JE, Gutmann DH. Reduced TSC2 RNA and protein in sporadic astrocytomas and ependymomas. Ann Neurol 1997;42: 230-5.
33. Gutmann DH, Saporito-Irwin S, DeClue JE, Wienecke R, Guha A. Alterations in the rap1 signaling pathway are common in human gliomas. Oncogene 1997;15:1611-6.
34. Cornelis RS, Neuhausen SL, Johanson O, Kelsell D, Ponder BAJ, Tonin P, et al. High allele loss rates at 17q12-21 in breast and ovarian tumors from BRCA1-linked families. Genes Chromosom Cancer 1995;13:203-10.
35. Collins N, McManus R, Wooster R, Mangion J, Seal S, Lakhani SR, et al. Consistent loss of the wildtype allele in breast cancers from a family linked to the BRCA2 gene on chr 13q12-13. Oncogene 1995;10:203-10.
36. Rohde K, Teare MD, Koref MS. Analysis of genetic linkage and somatic loss of heterozygosity in affected pairs of first-degree relatives. Am J Hum Genet 1997;61:418-22.
37. Lustbader ED, Rebbeck TR, Buetow KH. Using loss of heterozygosity data in affected pedigree member linkage tests. Genet Epidemiol 1995;12:339-50.
38. Hemminki A, Tomlinson I, Markie D, Jarvinen H, Sistonen P, Bjorkqvist A-M, et al. Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet 1997;15:87-90.
39. Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997;61:843-51.
40. Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, et al. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet 1997;6:2155-61.
41. Sampson JR, Patel A, Mee AD. Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family. J Med Genet 1995;32:848-50.
42. Knudson AGJ. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A 1971;68:820-3.