Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Somatisches Nephroblastom

Der Wilms-Tumor (Nephroblastom) kann auch durch somatische Mutationen in den Genen GPC3, WT1 und BRCA2 ausgelöst werden.

Gliederung

Wilms-Tumor
Aniridie-Wilms-Tumor-Syndrom
Denys-Drash-Syndrom
Somatisches Nephroblastom
GPC3
WT1
WAGR-Syndrom

Referenzen:

1.

White GR et. al. (2002) Somatic glypican 3 (GPC3) mutations in Wilms' tumour.

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2.

Rivera MN et. al. (2007) An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.

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3.

Turleau C et. al. (1984) Del11p13/nephroblastoma without aniridia.

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4.

Narahara K et. al. (1984) Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.

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5.

MILLER RW et. al. (1964) ASSOCIATION OF WILMS'S TUMOR WITH ANIRIDIA, HEMIHYPERTROPHY AND OTHER CONGENITAL MALFORMATIONS.

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6.

None (1975) Bilateral Wilms' tumour. Age at diagnosis, associated congenital anormalies, and possible pattern of inheritance.

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7.

Juberg RC et. al. (1975) Familial occurrence of Wilms' tumor: nephroblastoma in one of monozygous twins and in another sibling.

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8.

Knudson AG et. al. (1975) Letter: Familial Wilms's tumor.

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9.

Francke U et. al. (1979) Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.

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10.

Blanchet P et. al. (1977) XY gonadal dysgenesis with gonadoblastoma discovered after kidney transplantation.

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11.

Dressler GR et. al. (1992) Pax-2 is a DNA-binding protein expressed in embryonic kidney and Wilms tumor.

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12.

Haber DA et. al. (1992) A dominant mutation in the Wilms tumor gene WT1 cooperates with the viral oncogene E1A in transformation of primary kidney cells.

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13.

Ton CC et. al. (1991) Smallest region of overlap in Wilms tumor deletions uniquely implicates an 11p13 zinc finger gene as the disease locus.

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14.

Kakati S et. al. (1991) Constitutional extra chromosomal element in a family with Wilms' tumor.

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15.

Schwartz CE et. al. (1991) Familial predisposition to Wilms tumor does not segregate with the WT1 gene.

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16.

Huff V et. al. (1990) Parental origin of de novo constitutional deletions of chromosomal band 11p13.

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17.

Jeanpierre C et. al. (1990) Constitutional and somatic deletions of two different regions of maternal chromosome 11 in Wilms tumor.

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18.

van Heyningen V et. al. (1990) Role for the Wilms tumor gene in genital development?

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19.

None (1990) Molecular genetics. A gene for Wilms tumour?

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20.

Haber DA et. al. (1990) An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor.

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21.

Kumar S et. al. (1987) A cell line from Wilms' tumour with deletion in short arm of chromosome II.

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22.

Kozman HM et. al. (1989) Molecular genetic evidence for common pathogenesis of childhood and adult Wilms' tumor.

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23.

de Ronde A et. al. (1988) Morphological transformation by early region human polyomavirus BK DNA of human fibroblasts with deletions in the short arm of one chromosome 11.

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24.

Seawright A et. al. (1988) Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.

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25.

Puissant H et. al. (1988) Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient.

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26.

Grundy P et. al. (1988) Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11.

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27.

Huff V et. al. (1988) Lack of linkage of familial Wilms' tumour to chromosomal band 11p13.

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28.

Mannens M et. al. (1988) Molecular nature of genetic changes resulting in loss of heterozygosity of chromosome 11 in Wilms' tumours.

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29.

Schroeder WT et. al. (1987) Nonrandom loss of maternal chromosome 11 alleles in Wilms tumors.

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30.

Michalopoulos EE et. al. (1985) Molecular analysis of gene deletion in aniridia--Wilms tumor association.

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31.

Raizis AM et. al. (1985) A mitotic recombination in Wilms tumor occurs between the parathyroid hormone locus and 11p13.

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32.

Koufos A et. al. () Loss of heterozygosity in three embryonal tumours suggests a common pathogenetic mechanism.

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33.

Reeve AE et. al. () Expression of insulin-like growth factor-II transcripts in Wilms' tumour.

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34.

Scott J et. al. () Insulin-like growth factor-II gene expression in Wilms' tumour and embryonic tissues.

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35.

Scoggin CH et. al. (1985) The E7-associated cell-surface antigen: a marker for the 11p13 chromosomal deletion associated with aniridia-Wilms tumor.

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36.

van Heyningen V et. al. (1985) Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome.

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37.

Weissman BE et. al. (1987) Introduction of a normal human chromosome 11 into a Wilms' tumor cell line controls its tumorigenic expression.

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38.

Porteous DJ et. al. (1987) HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.

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39.

Dao DD et. al. (1987) Genetic mechanisms of tumor-specific loss of 11p DNA sequences in Wilms tumor.

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40.

Kinberg JA et. al. (1987) Nephropathy-gonadal dysgenesis, type 2: renal failure in three siblings with XY dysgenesis in one.

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41.

Haning RV et. al. (1985) A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.

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42.

None (1986) Chromosomal deletions and enzyme deficiencies.

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43.

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44.

None (1973) Wilms' tumour in father and son.

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45.

None (1973) A general theory of carcinogenesis.

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46.

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47.

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48.

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49.

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50.

Brown WT et. al. (1972) Wilms' tumor in three successive generations.

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51.

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52.

Meadows AT et. al. (1974) Wilms's tumor in three children of a woman with congenital hemihypertrophy.

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53.

Ladda R et. al. (1974) Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.

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54.

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55.

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56.

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57.

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58.

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59.

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60.

None (1981) Genetics of Wilms' tumor.

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61.

Kaneko Y et. al. (1981) Interstitial deletion of short arm of chromosome 11 limited to Wilms' tumor cells in a patient without aniridia.

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62.

Breslow NE et. al. (1982) Epidemiological features of Wilms' tumor: results of the National Wilms' Tumor Study.

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63.

McCoy FE et. al. (1983) Glomerulonephritis associated with male pseudohermaphroditism and nephroblastoma.

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64.

Huerre C et. al. () c-Ha-ras1 is not deleted in aniridia-Wilms' tumour association.

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65.

de Martinville B et. al. () The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour.

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66.

Koufos A et. al. () Loss of alleles at loci on human chromosome 11 during genesis of Wilms' tumour.

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67.

Orkin SH et. al. () Development of homozygosity for chromosome 11p markers in Wilms' tumour.

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68.

Reeve AE et. al. () Loss of a Harvey ras allele in sporadic Wilms' tumour.

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69.

Fearon ER et. al. () Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours.

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70.

Nordenskjöld A et. al. (1995) Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.

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71.

Varanasi R et. al. (1994) Fine structure analysis of the WT1 gene in sporadic Wilms tumors.

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72.

Haber DA et. al. (1993) WT1-mediated growth suppression of Wilms tumor cells expressing a WT1 splicing variant.

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73.

Park S et. al. (1993) Inactivation of WT1 in nephrogenic rests, genetic precursors to Wilms' tumour.

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74.

Park S et. al. (1993) Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.

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75.

Tsuchida Y et. al. (1995) [Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome].

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76.

Rahman N et. al. (1996) Evidence for a familial Wilms' tumour gene (FWT1) on chromosome 17q12-q21.

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77.

Schumacher V et. al. (1997) Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.

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78.

Miyagawa K et. al. (1998) Loss of WT1 function leads to ectopic myogenesis in Wilms' tumour.

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79.

McDonald JM et. al. (1998) Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors.

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80.

None (1998) Nephrogenic rests and the pathogenesis of Wilms tumor: developmental and clinical considerations.

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81.

Patek CE et. al. (1999) A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.

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82.

None (1999) Wilms' tumor and related abnormalities in the fetus and newborn.

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83.

Ruteshouser EC et. al. (2001) Absence of PPP2R1A mutations in Wilms tumor.

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84.

Lu YJ et. al. (2002) Chromosome 1q expression profiling and relapse in Wilms' tumour.

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85.

None (1957) A Wilms' tumour family.

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86.

FRASIER SD et. al. (1964) GONADOBLASTOMA ASSOCIATED WITH PURE GONADAL DYSGENESIS IN MONOZYGOUS TWINS.

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87.

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88.

Anglesio MS et. al. (2004) Differential expression of a novel ankyrin containing E3 ubiquitin-protein ligase, Hace1, in sporadic Wilms' tumor versus normal kidney.

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89.

Reid S et. al. (2005) Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

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90.

Regev M et. al. (2008) Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.

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91.

Slade I et. al. (2010) Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.

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92.

Royer-Pokora B et. al. (2010) Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

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