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Familiäre Tumorerkrankungen

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Genetik von Krankheiten des Urogenitalsystems

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Zusammenfassung

Krebs entsteht aus dem Wechselspiel von endogenen (genetischen) und exogenen (Umwelt) Faktoren. Ganz entscheidend sind dabei genetischen Prädispositionen (Keimbahn) und die erworbenen genetischen Störungen (somatischen Mutationen). Beide Faktoren tragen zum molekularen Pathomechanismus der verschiedenen Tumoren in quantitativ und qualitativ unterschiedlicher Weise bei: so mag eine primär erebte Enzymschwäche (z. B. für die DNA-Reparatur oder für die Karzinogeninaktivierung) die Voraussetzung darstellen, den dann tatsächlich karzinogenen Schaden an anderer Stelle des Genoms im Laufe des Lebens, z. B. in Abhängigkeit von der Karzinogenexposition zu erwerben. Das sich heute abzeichnende Bild der geneschen Störungen in einer Tumorzelle wird immer komplexer.

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Literatur

  • Aso T, Lane WS, Conaway JW and Conaway RC Elongin (SIII): a multisubunit regulator of elongation by RNA polymerase II. Science 269(1995)1439–1443

    Article  PubMed  CAS  Google Scholar 

  • Bailly M, Bain C, Favrot MC and Ozturk M Somatic mutations of von Hippel-Lindau (VHL) tumor­suppressor gene in European kidney cancers. Int. J. Cancer 63(1995)660–664.

    Article  PubMed  CAS  Google Scholar 

  • Bardeesy N, Falkoff D, Petruzzi MJ, Nowak N, Zabel B, Adam M, Aguiar MC, Grundy P, Shows T, Pelletier J Anaplastic Wilms’tumour, a subtype displaying poor prognosis, harbours p53 gene mutations. Nature Genet 7(1994)91–97.

    Article  PubMed  CAS  Google Scholar 

  • Beckwith JB New developments in the pathology of Wilms’tumor. Cancer Invest 15(1997)153–162.

    Article  PubMed  CAS  Google Scholar 

  • Beckwith JB, Kiviat NB, Bonadio JF Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms’tumor. Pediatr Pathol (1990)1–36.

    Google Scholar 

  • Bernues M, Casadevall C, Miro R, Caballin MR, Villavicencio H, Salvador J, Zamarron A and Egozcue J Cytogenetic characterization of a familial papillary renal cell carcinoma. Cancer Genet Cytogenet 84(1995)123–127.

    Article  PubMed  CAS  Google Scholar 

  • Bjornsson J, Short MP, Kwiatkowski DJ and Henske EP Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am. J. Pathol 149(1996)1201–1208.

    PubMed  CAS  Google Scholar 

  • Bourneville D Sclereuse tubereuse des circonvolutions cerebrates. Idiote et epilepsie hemiplegique. Arch. Neurol (Paris) 1(1880)81.

    Google Scholar 

  • Brauch H, Bohm J and Hofler H Hippel-Lindau syndrome and sporadic renal cell carcinomas. Pathogenesis, morphologic spectrum and molecular genetics. Pathologe 16(1995)321–327.

    Article  PubMed  CAS  Google Scholar 

  • Brauch H, Glavac D, Pausch F, Höfler H and Neumann HPH Genotype-Phenotype Correlations in Families with von Hippel-Lindau Disease: Missense Mutation at Codon 169 Correlates with the Development of Pheochromocytoma. Verh. Dtsch. Ges. Path. (1995)511.

    Google Scholar 

  • Brauch H, Kishida T, Glavac D, Chen F, Pausch F, Höfler H, Latif F, Lerman M, Zbar B, Neumann HPH, Hofler H, Lerman MI and Neumann, HP von Hippel-Lindau (VHL) disease with pheochro­mocytoma in the Black Forest region of Germany: evidence for a founder effect. Hum Genet 95(1995)551–556.

    Article  PubMed  CAS  Google Scholar 

  • Browne G, Jefferson JA, Wright GD, Hughes AE, Doherty CC, Nevin NC and Keogh JA Von Hippel-Lindau disease: an important differential diagnosis of polycystic kidney disease. Nephrol. Dial. Transplant. 12(1997)1132–1136.

    Article  PubMed  CAS  Google Scholar 

  • Cairns P, Tokino K, Eby Y and Sidransky D Localization of tumor suppressor loci on chromosome 9 in primary human renal cell carcinomas. Cancer Res. 55(1995)224–227.

    PubMed  CAS  Google Scholar 

  • Callen DF, Freemantle CJ, Ringenbergs ML, Baker E, Eyre HJ, Romain D and Haan EA The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization. Am. J. Hum. Genet. 47(1990)493–498.

    PubMed  CAS  Google Scholar 

  • Campbell SC and Novick AC Management of local recurrence following radical nephrectomy or partial nephrectomy. Urol Clin. North Am. 21(1994)593–599.

    PubMed  CAS  Google Scholar 

  • Carbonara C, Longa L, Grosso E, Borrone C, Garre MG, Brisigotti M and Migone N. 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum. Mol. Genet. 3(1994)1829–1832.

    Article  PubMed  CAS  Google Scholar 

  • Cavenee WK, Dryja TP, Phillips RA, Benedict WF, Godbout R, Gallie BL, Murphee AL, Strong LC and White RL Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 305(1983)779–784.

    Article  PubMed  CAS  Google Scholar 

  • Chauveau D, Duvic C, Chretien Y, Paraf F, Droz D, Melki P, Helenon O, Richard S and Grunfeld JP Renal involvement in von Hippel-Lindau disease. Kidney Int. 50(1996)944–951.

    Article  PubMed  CAS  Google Scholar 

  • Chen F, Kishida T, Duh FM, Renbaum P, Orcutt ML, Schmidt L and Zbar B Suppression Of Growth Of Renal Carcinoma Cells By The Van Hippel-Lindau Tumor Suppressor Gene. Cancer Res. 55(1995)4804–4807.

    PubMed  CAS  Google Scholar 

  • Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra J, Orcutt L, Duh FM, Glenn G, Green J, Hsia YE, Lamiell J, Li H, Wei MH, Schmidt L, Tory K, Kuzmin 1, Stackhouse T, Latif F, Linehan WM, Lerman M, Zbar B, Gnarra JR, Orcutt ML and et al: Germline Mutation in the von Hippel-Lindau Disease Tumor Suppressor Gene: Correlations with Phenotype. Hum Mutat 5(1995)66–75.

    Article  PubMed  CAS  Google Scholar 

  • Choyke PL, Glenn GM, Wagner JP, Lubensky IA, Thakore K, Zbar B, Linehan WM and Walther MM Epididymal cystadenomas in von Hippel-Lindau Syndrome. Urology. 49(1997)926–931.

    Article  PubMed  CAS  Google Scholar 

  • Christenson PJ, Craig JP, Bibro MC and O’Connell P Cysts Containing Renal Cell Carcinoma in von Hippel-Lindau DiseaseJ Urol 128(1982)798–800.

    CAS  Google Scholar 

  • Cook JA, Oliver K, Mueller RF and Sampson JA cross sectional study of renal involvement in tuberous sclerosis. J Med. Genet. 33(1996)480–484.

    Article  PubMed  CAS  Google Scholar 

  • Cridermiller SJ, Reid LH, Higgins MJ, Nowak NJ, Shows TB, Futreal PA, Weissman BE Novel transcribed sequences within the BWS/WT2 region in 11p15.5—tissue-specific expression correlates with cancer type. Genomics 46(1997)355–363.

    Article  CAS  Google Scholar 

  • Crossey PA, Foster K, Richards FM, Phipps ME, Latif F, Tory K, Jones M, Bentley E, Kumar R, Lerman M, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER, Jones MH and Lerman MI Molecular genetic investigations of the mechanism of tumorigenesis in von Hippel-Lindau disease: analysis of allele loss in VHL tumours. Hum Genet 93(1994)53–58.

    Article  PubMed  CAS  Google Scholar 

  • Crossey PA, Maher ER, Jones MH, Richards FM, Latif F, Phillips ME Lush, M, Foster, K, Tory, K, Green, JS, Oostra, B, Yates, JR, Linehan, WM, Affara, NA, Lerman, M, Zbar, B, Nakamura, Y and Ferguson-Smith, MA Genetic linkage between Von Hippel-Lindau disease and three microsatellite polymorphisms refines the localisation of the VHL locus. Hum Mol Genet 2,3(1993)279–282.

    Article  Google Scholar 

  • Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman M, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER, Lerman MI, Ferguson Smith MA and et al: Identification of intragenic mutations in the Von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 3,8(1994)1303–1308.

    Article  Google Scholar 

  • Davies DR, Norman AM, Whitehouse RW and Evans DG Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier. Clin. Genet. 45(1994)104–106.

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ, Neumann HP, Walter TA and Sandberg AA. 3p involvement in a renal cell carcinoma in von Hippel-Lindau syndrome. Region of tumor breakpoint clustering on 3p. Cancer Genet Cytogenet 33(1988)59–65.

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ, Gemmill RM, Neumann HP, Walter TA and Sandberg AA Loss of heterozygosity on 3p in a renal cell carcinoma in von Hippel-Lindau syndrome. Cancer Genet Cytogenet 39(1989)289–293.

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ, Klauck SM, Lawrence JB, McNeil J, Smith D, Gemmill RM, Sandberg AA, Neumann HH, Simon B, Green J and Seizinger BR Cytogenetic and fluorescence in situ hybridization studies on sporadic and hereditary tumors associated with von Hippel-Lindau syndrome (VHL). Cancer Genet Cytogenet 77(1994)1–13.

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ, Neuhaus C, Jauch A, Speicher M, Ried T, Bujard M, Branch H, Storkel S, Stockle M, Seliger B and Huber C Detection of a germline mutation and somatic homozygous loss of the von HippelLindau tumor- suppressor gene in a family with a de novo mutation. A combined genetic study, including cytogenetics, PCR/SSCP, FISH, and CGH. Hum. Genet. 97(1996)770–776.

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ, Neuhaus C, Störkel S, Brauch H, Speicher M, Seliger B, Stöckle M and Huber C Genetische Grundlagen und Konsequenzen für die Tumordiagnostik und genetische Beratung beim von Hippe-Lindau Syndrom. In Lehnert H, Kopf D and Hensen J (Eds.), Endokrine Tumoren. Prognostische Parameter, rationelle Diagnostik und Therapie. (1996)173–179.

    Google Scholar 

  • Decker HJ, Weidt EJ Brieger J The von Hippel-Lindau tumor suppressor gene. A rare and intriguing disease opening new insight into basic mechanisms of carcinogenesis. Cancer Genet Cytogenet 93(1997)74–83

    Article  PubMed  CAS  Google Scholar 

  • Decker HJ and Stökel S Moleku;argenetischen Diagnostik und Histopathologie epithelialer Nierentumoren. Onkologe 4(1998)214–220

    Article  Google Scholar 

  • Duan DR, Humprey JS, Chen DY, Weng Y, Sukegawa J, Lee S, Gnarra JR, Linehan WM and Klausner RD Characterization of the VHL tumor suppressor gene product: localization, complex formation, and the effect of natural inactivating mutations. Proc Natl. Acad Sci. U. S. A 92(1995a)6459–6463.

    Article  PubMed  CAS  Google Scholar 

  • Duan DR, Pause A, Burgess WM, Aso T, Chen DYT, Garret KP, Conaway JW, Linehan WN and Klausner RD Inhibition Of Transcription Elongation By The VHL Tumor Suppressor Pro­tein. Science 269(1995b)1402–1406.

    Article  PubMed  CAS  Google Scholar 

  • Eng C, Crossey PA, Mulligan LM, Healy CS and Houghton DC Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J. Clin. Genet. (1995)934–937.

    Google Scholar 

  • European Chromosome 16 Tuberous Sclerosis Consortium: Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(1993)1305–1315.

    Article  Google Scholar 

  • Foster K, Prowse A, van den Berg A, Fleming S, Hulsbeek MM, Crossey PA, Richards FM, Cairns P, Affara NA, Ferguson-Smith MA, Buys CHCM, Maher ER, Ferguson Smith MA and et al: Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet 3(12)(1994)2169–2173.

    Article  PubMed  CAS  Google Scholar 

  • Gilcrease MZ, Schmidt L, Zbar B, Truong L, Rutledge M and Wheeler TM Somatic Von Hippel Lindau Mutation In Clear Cell Papillary Cystadenoma Of The Epididymis. Human Pathology 26(1995)1341–1346.

    Article  PubMed  CAS  Google Scholar 

  • Glavac D, Neumann HPH, Wittke C, Jaenig H, Masek O, Streicher T, Pausch F, Engelhardt D, Plate KH,Höfler H, Chen F, Zbar B, Brauch H, Neumann HP and Hofler H Mutations in the VHL Tumor Suppressor Gene and associated lesions in Families with von Hippel-Lindau Disease from Central Europe. Hum Genet 98,3(1996)271–280.

    Article  PubMed  CAS  Google Scholar 

  • Gnarra JR, Tory K, Weng Y, Schmidt L, Wei MH, Li H, Latif F, Liu S, Chen F, Duh FM,. et al: Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat. Genet 7(1994)85–90.

    Article  PubMed  CAS  Google Scholar 

  • Gnarra JR, Lerman MI, Zbar B and Linehan WM Genetics of renal-cell carcinoma and evidence for a critical role for von Hippel-Lindau in renal tumorigenesis. Semin. Oncol. 22(1995)3–8.

    PubMed  CAS  Google Scholar 

  • Gnarra JR, Ward JM, Porter FD, Wagner JR, Devor DE, Grinberg A, Emmert Buck MR, Westphal H, Klausner RD and Linehan WM Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice. Proc. Natl. Acad. Sci. USA 94(1997)9102–9107.

    Article  PubMed  CAS  Google Scholar 

  • Green AJ, Smith M and Yates JR Loss of heterozygosity on chromosome 16p 13.3 in hamartomas from tuberous sclerosis patients. Nat. Genet. 6(1994)193–196.

    Article  PubMed  CAS  Google Scholar 

  • Green DM. Pediatric oncology update—Wilms’tumor. Europ J Cancer 33(1997)409–418.

    Article  CAS  Google Scholar 

  • Grundy PE, Telzerow PE, Breslow N, Moksness J, Huff V, Paterson MC Loss of heterozygosity for chromosomes 16q and 1p in Wilms’tumors predict an adverse outcome. Cancer Res 54(1994)2331–2333.

    PubMed  CAS  Google Scholar 

  • Harms D, Schmidt D Tumoren des Kindeslters. In: Pathologie. Remmle W (Hrsg. ) Springer-Verlag Berlin, Heidelberg New York (1997) 501–550.

    Chapter  Google Scholar 

  • Hastie ND The genetics of Wilms’tumor—a case of disrupted development. Annu Rev Genet 28 (1994) 523–558.

    Article  PubMed  CAS  Google Scholar 

  • Henske EP, Neumann HP, Scheithauer BW, Herbst EW, Short MP and Kwiatkowski DJ Loss of heterozygosity in the tuberous sclerosis (TSC2)region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal renal angiomyolipomas. Genes Chromosomes. Cancer 13 (1995) 295–298.

    CAS  Google Scholar 

  • Herman JG, Latif F, Weng Y, Lerman MI, Zbar B, Liu S, Samid D, Duan DS, Gnarra JR, Linehan WM, et al. and et al: Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl. Acad Sci. U. S. A 91 (1994) 9700–9704.

    Article  PubMed  CAS  Google Scholar 

  • Van Heyningen V, Bickmore WA, Seawright A, Flecher JM, MauleJ, Fekete G, Gessler M, Bruns GA, Huerre-Jeanpierre C, Junien C Role for the Wilms’tumor gene in genital development? Proc Natl Acad Sci USA 87 (1990) 5383–5386.

    Article  PubMed  Google Scholar 

  • Iliopoulos O, Kibel A, Gray S and Kaelin WG Jr Tumour suppression by the human von Hippel-Lindau gene product. Nat. Med 1 (1995) 822–826.

    Article  PubMed  CAS  Google Scholar 

  • Iliopoulos O, Levy AP, Jiang C, Kaelin WG Jr and Goldberg MA Negative regulation of hypoxia-inducible genes by the von Hippel-Lindau protein. Proc Natl. Acad Sci. U. S. A 93 (1996) 10595–10599.

    Article  PubMed  CAS  Google Scholar 

  • Janssen LA, Sandkyul LA, Merkens EC, Maat Kievit JA, Sampson JR, Fleury P, Hennekam RC, Grosveld GC, Lindhout D and Halley DJ Genetic heterogeneity in tuberous sclerosis. Genomics 8 (1990) 237–242.

    Article  PubMed  CAS  Google Scholar 

  • Jones AC, Daniells CE,Snell RG, Tachataki M, Idziaszczyk S. AUCH, Krawczak M, Sampson JR and Cheadle JP Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum. Mol. Genet. 6 (1997) 2155–2161.

    Article  PubMed  CAS  Google Scholar 

  • Jones KL Smith’s Recognizable Patterns of Human Malformation. Saunders, Philadelphia, 1997.

    Google Scholar 

  • Junien C, Henry I Genetics of Wilms’tumor: a blend of aberrant development and genomic imprinting. Kidney Int 46 (1994) 1264–1279.

    Article  PubMed  CAS  Google Scholar 

  • Kandt RS, Pericak Vance MA, Hung WY, Gardner RJ, Crossen PE, Nellist MD, Speer MC and Roses AD Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! Ann. N. Y. Acad. Sci. 615 (1991)284–297.

    Article  PubMed  CAS  Google Scholar 

  • Kanno H, Kondo K, Ito S, Yamamoto I, Fujii S, Torigoe S, Sakai N, Hosaka M, Shuin T and Yao M Somatic mutations of the von Hippel-Lindau tumor suppressor gene in sporadic central nervous system hemangioblastomas. Cancer Res. 54 (1994) 4845–4847.

    PubMed  CAS  Google Scholar 

  • Kibel A, Iliopoulos O, DeCaprio JA and Kaelin WG Binding of the von Hippel-Lindau Tumor Suppressor Protein to elongin B and C. Science 269 (1995) 1444–1446.

    Article  PubMed  CAS  Google Scholar 

  • Kinzler KW and Vogelstein B Lessons from hereditary colorectal cancer. Cell 87 (1996) 159–170.

    Article  PubMed  CAS  Google Scholar 

  • Kishida T, Stackhouse TM, Chen F, Lerman MI and Zbar B Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. Cancer Res. 55 (1995) 4544–4548.

    PubMed  CAS  Google Scholar 

  • Kishida T, Yao M, Chen F, Orcutt ML, Lerman MI and Zbar B A novel donor splice site mutation associated with two mRNAs in von Hippel-Lindau disease. Hum Mol Genet 3,7 (1994) 1191–1192.

    Article  PubMed  CAS  Google Scholar 

  • Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WTI +/-KTS splice isoforms. Hum Molec Genet 7 (1998) 709–717.

    Article  PubMed  CAS  Google Scholar 

  • Knudson AG. Mutation and cancer: statistical study of retinoblastoma. Proc. Nad. Acad. Sci. USA 68 (1971) 820–823.

    Article  Google Scholar 

  • Knudson AG, Strong LC. Mutation and cancer: a model for Wilms’tumor of the kidney. J Natl Cancer Inst 48 (1972) 313–324.

    PubMed  Google Scholar 

  • Kobayashi T, Hirayama Y, Kobayashi E, Kubo Y and Hino, OA gene insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer [published erratum appears in Nat Genet 1995 Feb;9(2):218]. Nat. Genet 9 (1995) 70–74.

    Article  PubMed  Google Scholar 

  • Kovacs G, Fuzesi L, Emanual A and Kung HF Cytogenetics of papillary renal cell tumors. Genes Chrom Cancer 3 (1991) 249–255.

    Article  PubMed  CAS  Google Scholar 

  • Kovacs G and Kung HF Nonhomologous chromatid exchange in hereditary and sporadic renal cell carinomas. Proc. Natl. Acad. Sci. USA 88 (1991) 194–198.

    Article  PubMed  CAS  Google Scholar 

  • Kreidberg JA, Sariola H, Loring JM, Maeda M, Pelletier J, Housman D, Jaenisch R. WT1 is required for early kidney development. Cell 74 (1993) 679–691.

    Article  PubMed  CAS  Google Scholar 

  • Kumar A, Wolpert C, Kandt RS, Segal J, Pufky J, Roses AD, Pericak Vance MA and Gilbert JR A de novo frame-shift mutation in the tuberin gene. Hum. Mol. Genet. 4 (1995) 1471–1472.

    Article  PubMed  CAS  Google Scholar 

  • Lamiell JM, Salazar FG and Hsia,YE von Hippel-Lindau disease affecting 43 members of a single kindred. Medicine (Baltimore.) 68 (1989) 1–29.

    CAS  Google Scholar 

  • Latif F, Tory K, Gnarra J, Masahiro Y, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke P, Walther MM, Weng Y, Duan DSR, Dean M, Glavac D, Richards FM, Crossey PA, Ferguson-Smith MA, Paslier DL, Chumakov I, Cohen D, Chinault C, Maher E, Linehan WM, Zbar B and Lerman MI Identification of the von Hippel-Lindau Disease Tumor Suppressor Gene. Science 260 (1993) 1317–1320.

    Article  PubMed  CAS  Google Scholar 

  • Lee S, Chen DYT, Humphrey JS and Klausner RD Nuclear/cytoplasmic localization of the von Hippel­Lindau tumor suppressor gene product is determined by cell density. Proc. Natl. Acad. Sci. USA 93 (1996)1770–1775.

    Article  PubMed  CAS  Google Scholar 

  • Lee MP, Hu RJ, Johnson LA, Feinberg AP Human KVLQT1 Gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet 15 (1997) 181–185.

    Article  PubMed  Google Scholar 

  • Little M, Holmes G, Bickmore W, van Heyningen V, Hastie N, Wainwright B DNA binding capacity of the WT1 protein is abolished by Denys-brash syndrome WT1 point mutations. Hum Molec Genet 4 (1995) 351–358.

    Article  PubMed  CAS  Google Scholar 

  • Little M, Wells CA clinicasl overview of WT1 gene mutations. Hum Mutation 9 (1997) 209–225.

    Article  CAS  Google Scholar 

  • Löbbert RW, Klemm G, Grüttner H-P, Harms D, Winterpacht A, Zabel BU Novel WT1 mutation, 11p LOH, and t(7;12)(p22;q22) chromosomal translocation identified in a Wilms’tumor case. Genes Chromosomes & Cancer 21 (1998) 347–350.

    Article  Google Scholar 

  • Los M, Jansen GH, Kaelin WG, Lips CJM, Blijham GH and Voest EE Expression pattern of the von Hippel_lindau Protein in human tissues. Lab Invest. 75 (1996) 231–238.

    PubMed  CAS  Google Scholar 

  • Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M and Evans DGR A Genetic Register For Von Hippel-Lindau Disease. J.. Med. Genet. 33 (1996) 120–127.

    Article  PubMed  CAS  Google Scholar 

  • Maher ER, Yates JRW, Harries R, Benjamin C, Harris R, Moore AT and Ferguson-Smith MA Clinical Features and Natural History of von Hippel-Lindau Disease. Q. J. Med. 77,203 (1990) 1151–1163.

    PubMed  CAS  Google Scholar 

  • Maher ER, Bentley E, Yates JR, Latif F, Lerman M, Zbar B, Affara NA and Ferguson-Smith MA Mapping of the von Hippel-Lindau disease locus to a small region of chromosome 3p by genetic linkage analysis. Genomics 10 (1991) 957–960.

    Article  PubMed  CAS  Google Scholar 

  • Maher ER, Iselius L, Yates JR, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA and Morton N Von Hippel-Lindau disease: a genetic study. J. Med. Genet. 28 (1991) 443–447.

    Article  PubMed  CAS  Google Scholar 

  • Maher ER Von Hippel-Lindau disease. In Hodgson SV and Maher ER (Eds. ), A practical guide to human cancer genetics. Cambridge University Press, Cambridge (1993) 157–162.

    Google Scholar 

  • Maher ER Van Hippel-Lindau disease. Eur. J. Cancer 30 A (1994) 1987–1990.

    Article  Google Scholar 

  • Maher ER Inherited renal cell carcinoma. Br. J. Urol 78 (1996) 542–545.

    PubMed  CAS  Google Scholar 

  • Maher ER and Kaelin WG Jr von Hippel-Lindau disease. Medicine Baltimore. 76 (1997) 381–391.

    Article  PubMed  CAS  Google Scholar 

  • Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC and Sampson JR The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Hum. Mol. Genet. 6 (1997) 1991–1996.

    Article  PubMed  CAS  Google Scholar 

  • McDonald JM, Douglass EC, Fisher R, Geiser CF, Krill CE, Strong LC, Virshup D, Huff V Linkage of familial Wilms’tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. Cancer Res 58 (1998) 1387–1390.

    PubMed  CAS  Google Scholar 

  • Melmon KL and Rosen SW Lindau’s Disease. Review of the Literature and Study of a Large Kindred. Am. J. Med. 36 (1964) 595–617.

    Article  PubMed  CAS  Google Scholar 

  • Mertens F, Johansson B, Höglund M, Mitelman F Chromosomal imbalance maps of malignant solid tumors: a cytogenetic survey of 3185 neoplasms. Cancer Res 57 (1997) 2765–2780.

    PubMed  CAS  Google Scholar 

  • Moffett P, Bruening W, Nakagama H, Bardeesy N, Housman DE, Pelletier J Antagonism of WT1 activity by protein self-association. Proc Natl Acad Sci USA 92 (1995) 11105–11109.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HP Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. Vasa 16 (1987) 220–226.

    PubMed  CAS  Google Scholar 

  • Neumann HP and Wiestler OD Clustering of features of von Hippel-Lindau syndrome: evidence for a complex genetic locus. Lancet 337 (1991) 1052–1054.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HP, Bergen DP and Sigmund G Pheochromocytomas, Multiple Endocrine Neoplasia Type 2, And Von Hippel-Lindau Disease. N. Engl. J. Med. (1993) 1531–1538.

    Google Scholar 

  • Neumann HP, Eng C, Mulligan LM, Glavac D, Zauner I, Ponder BA, Crossey PA, Maher ER and Brauch H Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 274 (1995)1149–1151.

    Article  PubMed  CAS  Google Scholar 

  • Neumann HP, Lips CJ, Hsia YE and Zbar B Von Hippel-Lindau syndrome. Brain Pathol 5 (1995) 181–193.

    Article  PubMed  CAS  Google Scholar 

  • Nicol D, Hii SI, Walsh M, Teh B, Thompson L, Kennett C and Gotley D vascular endothelial growth factor expression is increased in renal cell carcinoma. J. Urol. 157 (1997)1482–1486.

    Article  PubMed  CAS  Google Scholar 

  • Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, Daiger SP and Blanton SH Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere. Am. J Hum. Genet. 51 (1992) 709–720.

    PubMed  CAS  Google Scholar 

  • Okeefe D, Dao D, Zhao L, Sanderson R, Warburton D, Weiss L, Anyaneyeboa K, Tycko B Coding mutations in p57(KIP2) are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms’tumors. Am J Hum Genet 61 (1997) 295–303.

    Article  CAS  Google Scholar 

  • Park S, Bernard A, Bove KE, Sens DA, Hazen-Martin DJ, Garvin AJ, Haber DA Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms’tumour. Nature Genet 5 (1993) 363–367.

    Article  PubMed  CAS  Google Scholar 

  • Pause A, Lee S, Worrell RA, Chen DYT, Burgess WH, Linehan WM and Klausner RD The von HippelLindau tumor-suppressor gene product forms a stable complex with human cul-2, a member of the Cdc53 family of proteins. Proc. Natl. Acad. Sci. 94 (1997) 2156–2161.

    Article  PubMed  CAS  Google Scholar 

  • Piala G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D Mutations in GPC3, a glypican gene, cause the Sampson-Golabi-Behmel overgrowth syndrome. Nature Genet 12 (1996) 241–247.

    Article  Google Scholar 

  • Rahman N, Arbour L, Tonin P, Renshaw J, Pelletier J, Baruchel S, Pritchard-Jones K, Stratton MR, Narod S. AUCH Evidence for a familial Wilms’tumor gene (FWT1) on chromosome 17ql2-q2l. Nature Genet 13 (1996) 461–463.

    Article  PubMed  CAS  Google Scholar 

  • Reddy JC, Licht J. D The WT1 Wilms’tumor suppressor gene: how much do we really know? Biochim Biophys Acta 1287 (1996) 1–28.

    PubMed  Google Scholar 

  • Reik W, Maher ER Imprinting in clusters—lessons from Beckwith-Wiedemann syndrome. Tends Genet 13 (1997) 330–334.

    Article  CAS  Google Scholar 

  • Richard C, Zabel B Chromosome 11 genes and those associated with diseases. Cytogenet Cell Genet 74(1996)25–36.

    Article  Google Scholar 

  • Richards FM, Crossey PA, Phipps ME, Foster K, Latif F, Evans GA, Sampson J, Lerman M, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER, Evans G, Lerman MI and et al: Detailed mapping of germline deletions of the van Hippel-Lindau disease tumour suppressor gene. Hum Mot Genet 3 (1994) 595–598.

    Article  CAS  Google Scholar 

  • Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson Smith MA and Maher ER Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 4 (1995) 2139–2143.

    Article  PubMed  CAS  Google Scholar 

  • Sampson JR The kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms. Nephrol. Dial. Transplant. 11 Suppl 6 (1996) 34–37.

    PubMed  Google Scholar 

  • Schmidt L, Duh FM, Chen F, Kishida T, Glenn G, Choyke P, Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, Zamarron A, Bernues M, Richards S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker HJ, Niehaus G, Hughson MD, Moch H, Störkel S, Lerman M, Linehan WM an Zbar B Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat. Genet 16 (1997) 68–73.

    Article  PubMed  CAS  Google Scholar 

  • Schneider MC Advances in polycystic kidney disease. Mol. Med. Today 2 (1996) 70–75.

    Article  PubMed  CAS  Google Scholar 

  • Schumacher V, Schneider S, Figge A, Wildhardt D, Harms D, Schmidt D, Weirich A, Ludwig R, Royer-Pokora B Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-prominent histology. Proc. Natl. Acad. Sci. USA 94 (1997) 3972–3977.

    Article  PubMed  CAS  Google Scholar 

  • Seizinger BR, Rouleau GA, Ozelius LJ, Lane AH, Farmer GE, Lamiell JM, Haines J, Yuen JW, Collins D, Majoor Krakauer D and et al. Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 332 (1988) 268–269.

    Article  PubMed  CAS  Google Scholar 

  • Seizinger BR, Smith DI, Filling-Katz MR, Neumann H, Green JS, Choyke PL, Anderson KM, Freiman RN, Klauck SM, Whaley J, Decker HJ and et al. Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease. Proc. Natl. Acad. Sci. USA 88 (1991) 2864–2868.

    Article  PubMed  CAS  Google Scholar 

  • Shinohara N, Nonomura K, Harabayashi T, Togashi M, Nagamori S and Koyagani T Nephron sparing surgery for renal cell carcinoma in von Hippel-Lindau disease. J. Urol 154 (1995) 2016–2019.

    Article  PubMed  CAS  Google Scholar 

  • Shuin T, Kondo K, Kaneko S, Sakai N, Yao M, Hosaka M, Kanno H, Ito S and Yamamoto I Results of mutation analyses of von Hippel-Lindau disease gene in Japanese patients: comparison with results in United States and United Kingdom. Hinyokika Kiyo 41 (1995) 703–707.

    PubMed  CAS  Google Scholar 

  • Shuin T, Kondo K, Torigoe S, Kishida T, Kubota Y, Hosaka M, Nagashima Y, Kitamura H, Latif F, Zbar B, Lerman MI, Yao M and et al: Frequent Somatic Mutations and Loss of Heterozygosity of the von Hippel-Lindau Tumor Suppressor Gene in Primary Human Renal Cell Carcinomas. Cancer Res. 54 (1994) 2852–2855.

    PubMed  CAS  Google Scholar 

  • van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Jassen 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, Kwiatkowski DJ and et al: Identification of the tuberous sclerosis gene TSCI on chromosome 9q34. Science 277 (1997) 805–808.

    Article  PubMed  Google Scholar 

  • Siemeister G, Weindel K, Mohrs K, Barleon B, Martiny-Baron G, Marmé D, Martiny Baron G and Marme, D Reversion of Deregulated Expression of Vascular Endothelial Growth Factor in Human Renal Carcinoma Cells by von Hippel-Lindau Tumor Suppressor Protein. Cancer Res. (1996) 2299–2301.

    Google Scholar 

  • Solomon D and Schwartz A Renal Pathology in von Hippel-Lindau Disease. Hum Pathol (1996) 1072–1079.

    Google Scholar 

  • Soucek T, Pusch O, Wienecke R, ReClue JE, and Hengstschlager M 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 (1997) 29301–29308.

    Article  PubMed  CAS  Google Scholar 

  • Spencer WF, Novick AC, Montie JE, Streem SB and Levin, HS Surgical treatment of localized renal cell carcinoma in von Hippel-Lindau’s disease. J. Urol. 139 (1988) 507–509.

    PubMed  CAS  Google Scholar 

  • Stackhouse TM, Lerman M and Zbar B An in vivo analysis of the Hippel-Lindau tumor suppressor protein. Proc. Am. Assoc. Cancer Res. 36(A) (1995) 570.

    Google Scholar 

  • Steinbach F, Novick AC and Shoskes D Renal transplantation in patients with renal cell carcinoma and von Hippel-Lindau disease. Urology. 44 (1994) 760–763.

    Article  PubMed  CAS  Google Scholar 

  • Steinbach F, Thuroff JW, Stockle M, Furrer A Riedmiller H, Kiewel R and Hohenfellner R Organ-preserving surgery of renal cell carcinoma. The surgical technic, results and complications. Dtsch. Med. Wschr. 116 (1991) 121–127.

    Article  PubMed  CAS  Google Scholar 

  • Sugao H, Takiuchi H, Takatera H, Yokokawa K, Sakurai T and Kobayashi Y Renal oncocytona associated with tuberous sclerosis: report of a case. Hinyokika Kiyo 33 (1987) 1411–1415.

    PubMed  CAS  Google Scholar 

  • Sun FL, Dean WL, Kelsey G, Allen ND, Reik W Transactivation of IGF2 in a mouse model of BeckwithWiedemann syndrome. Nature 389 (1997) 809–815.

    Article  PubMed  CAS  Google Scholar 

  • Takahashi A, Sasaki H, Kim SJ, Tobisu KI, Kakizoe T, Tsukamoto T, Kumamoto Y, Sugimura T and Terada M Markedly Increased Amounts of Messenger RNAs for Vascular Endothelial Associated Factor and Placenta Growth Factor in Renal Cell Carcinoma Associated Angiogenesis. Cancer Res. 54 (1994) 4233–4237.

    PubMed  CAS  Google Scholar 

  • Teh BT, Giraud S, Sari NF, Hii SI, Bergerat JP, Larsson C, Limacher JM and Nicol D Familial non-VHL non-papillary clear-cell renal cancer. Lancet 349 (1997) 848–849.

    Article  PubMed  CAS  Google Scholar 

  • Thoenes W, Störkel S and Rumpelt HJ Histopathology and Classification of Renal Cell Tumors (Adenomas,Oncocytomas, and Carcinomas). The Basic Cytological and Histopathological Elements and their Use for Diagnostics. Path. Res. Pract. 181 (1986) 125–143.

    CAS  Google Scholar 

  • Tsuchiya H, Iseda T and Hino O Identification of a Novel Protein (VBP-1) Binding to the von Hippel- Lindau (VHL) Tumor Suppressor Gene Product. Cancer Res. 56 (1996) 2881–2885.

    PubMed  CAS  Google Scholar 

  • Walther MM, Lubensky IA, Venzon D, Zbar B and Linehan WM Prevalence of microscopic lesions in grossly normal renal parenchyma from patients with von Hippel-Lindau disease, sporadic renal cell carcinoma and no renal disease: clinical implications. J. Urol 154 (1995) 2010–2014.

    Article  PubMed  CAS  Google Scholar 

  • Washecka R and Hanna M Malignant renal tumors in tuberous sclerosis. Urology. 37 (1991) 340–343.

    Article  PubMed  CAS  Google Scholar 

  • Weidner N and Folkman J Tumoral Vascularity as a Prognostic Factor in Cancer. In De-Vita V, Hellman S and Rosenberg S. AUCH (Eds. ),Important Advances in Oncology. Lippincott-Raven, Philadelphia, 1996, pp. 167–190.

    Google Scholar 

  • Weterman MA, Wilbrink M, Janssen I, Janssen HA, van den Berg E, Fisher SE, Craig I and Geurts van Kessel A Molecular cloning of the papillary renal cell carcinoma-associated translocation (X;1) (p11;g21) breakpoint. Cytogenet Cell Genet 75 (1996) 2–6.

    Article  PubMed  CAS  Google Scholar 

  • Whaley JM, Naglich J, Gelbert L, Hsia YE, Lamiell JM, Green JS, Collins D, Neumann HP, Laidlaw J, Li FP and et al: Germ-line mutations in the von Hippel-Lindau tumor-suppressor gene are similar to somatic von Hippel-Lindau aberrations in sporadic renal cell carcinoma. Am. J. Hum Genet 55 (1994) 1092–1102.

    PubMed  CAS  Google Scholar 

  • Wiener JS, Coppes MJ, Ritchey ML Current concepts in the biology and management of Wilms’tumor. J Urology 159 (1998) 1316–1325.

    Article  CAS  Google Scholar 

  • Wizigmann Voos S, Breier G, Risau W and Plate KH Up-regulation of vascular endothelial growth factor and its receptors in von Hippel-Lindau disease-associated and sporadic hemangioblastomas. Cancer Res. 55 (1995) 1358–1364.

    PubMed  CAS  Google Scholar 

  • Yao M, Latif F, Orcutt ML, Kuzmin I, Stackhouse T, Zhou FW, Tory K, Duh FM, Richards F, Maher E and et al: von Hippel-Lindau disease: identification of deletion mutations by pulsed-field gel electrophoresis. Hum Genet 92 (1993) 605–614.

    Article  PubMed  CAS  Google Scholar 

  • Yeung RS, Xiao GH, Jin F, Lee WC, Testa JR and Knudson AG Predisposition to renal carcinoma in the Eker rat is determined by germ-line mutation of the tuberous sclerosis 2 (TSC2) gene. Proc Natl. Acad Sci. U. S. A 91(1994)11413–11416.

    Article  PubMed  CAS  Google Scholar 

  • Zbar B, Branch H, Talmadge C and Linehan M Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature 327 (1987) 721–724.

    Article  PubMed  CAS  Google Scholar 

  • Zbar B, Glenn G, Lubensky I, Choyke P, Walther MM, Magnusson G, Bergerheim US, Pettersson S, Amin M, Hurley K and et al: Hereditary papillary renal cell carcinoma: clinical studies in 10 families. J. Urol 153 (1995) 907–912.

    Article  PubMed  CAS  Google Scholar 

  • Zbar B, Kishida T, Chen F, Schmidt L, Maher ER, Richards FM, Crossey PA, Webster AR, Affara NA, Ferguson Smith MA, Brauch H, Glavac D, Neumann HP, Tisherman S, Mulvihill JJ, Gross DJ, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, Richard S, Lips CH, Lerman M and et al: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat 8 (1996) 348–357.

    Article  PubMed  CAS  Google Scholar 

  • Zbar B and Linehan WM Re: Hereditary papillary renal cell carcinoma: clinical studies in 10 families [letter]. J. Urol 156 (1996)1781.

    Article  PubMed  CAS  Google Scholar 

  • Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M and Linehan WM Hereditary papillary renal cell carcinoma. J. Urol 151 (1994) 561–566.

    PubMed  CAS  Google Scholar 

  • Zhang PM, Liegeois NJ, Wong C, Finegold M, Hou H, Thompson JC, Silverman A, Harper JW, Depinho RA, Elledge SJ Altered cell differentiation and proliferation in mice lacking p57(KIP2) indicates role in Beckwith-Wiedemann syndrome.

    Google Scholar 

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  1. J. Decker
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  2. B. Zabel
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  1. Klinik und Poliklinik für Urologie und Kinderurologie, der Universität des Saarlandes, 66421, Homburg/Saar, Deutschland

    Bernd Wullich Priv. Doz. Dr. med.

  2. Leiter des Instituts für Humangenetik, der Universität des Saarlandes, 66421, Homburg/Saar, Deutschland

    Klaus Dieter Zang Prof. Dr. med.

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Decker, J., Zabel, B. (2000). Familiäre Tumorerkrankungen. In: Wullich, B., Zang, K.D. (eds) Genetik von Krankheiten des Urogenitalsystems. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59589-9_11

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