Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Nichtpapilläres Nierenzellkarzinom

Das Hypernephrom ist eine bösartige Nierenerkrankung, die sich histologisch durch klarzellige Carcinomzellen auszeichnet. Meist sind es somatische Mutationen, die ein solches Carcinom auslösen. Wenn allerdings solche Carcinome an verschiedenen Stellen und beidseitig auftreten sollte auch an Keimbahnmutationen in den genannten Genen gedacht werden. Die Vererbung ist dominant allerdings mit unterschiedlicher Penetranz.

Gliederung

Hereditäre Nierentumoren
Hereditäre Leiomyomatose mit Nierenzellkarzinom
Hereditäres papilläres Nierenzellkarzinom
Nichtpapilläres Nierenzellkarzinom
DIRC2
FLCN
HNF1A
HNF1B
OGG1
RNF139
VHL
Wilms-Tumor
von Hippel-Lindau-Syndrom

Referenzen:

1.

Miles J et al. (1988) Genomic defects in nonfamilial renal cell carcinoma. Possible specific chromosome change.

external link
2.

Pathak S et al. (1986) Specific chromosome anomalies and predisposition to human breast, renal cell, and colorectal carcinoma.

external link
3.

Kovacs G et al. (1987) Specific chromosome aberration in human renal cell carcinoma.

external link
4.

King CR et al. (1987) Proximal 3p deletion in renal cell carcinoma cells from a patient with von Hippel-Lindau disease.

external link
5.

Szücs S et al. (1987) Deletion 3p: the only chromosome loss in a primary renal cell carcinoma.

external link
6.

Harris P et al. (1986) Mapping by chromosome sorting of several gene probes, including c-myc, to the derivative chromosomes of a 3;8 translocation associated with familial renal cancer.

external link
7.

Carroll PR et al. (1987) Abnormalities at chromosome region 3p12-14 characterize clear cell renal carcinoma.

external link
8.

Teyssier JR et al. (1986) Recurrent deletion of the short arm of chromosome 3 in human renal cell carcinoma: shift of the c-raf 1 locus.

external link
9.

Kovacs G et al. (1988) Loss of der(3) in renal carcinoma cells of a patient with constitutional t(3;12).

external link
10.

Kovacs G et al. (1988) Recurrent genomic rearrangements are not at the fragile sites on chromosomes 3 and 5 in human renal cell carcinomas.

external link
11.

Yoshida MA et al. (1986) Rearrangement of chromosome 3 in renal cell carcinoma.

external link
12.

Erlandsson R et al. (1988) Do human renal cell carcinomas arise by a double-loss mechanism?

external link
13.

Gemmill RM et al. (1989) A 1.5-megabase restriction map surrounding MYC does not include the translocation breakpoint in familial renal cell carcinoma.

external link
14.

Linehan M et al. (1989) Improved detection of allele loss in renal cell carcinomas after removal of leukocytes by immunologic selection.

external link
15.

Kovacs G et al. (1989) Clonal chromosome abnormalities in tumor cells from patients with sporadic renal cell carcinomas.

external link
16.

Kovacs G et al. (1988) Consistent chromosome 3p deletion and loss of heterozygosity in renal cell carcinoma.

external link
17.

Zbar B et al. () Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma.

external link
18.

van der Hout AH et al. (1988) Direct molecular analysis of a deletion of 3p in tumors from patients with sporadic renal cell carcinoma.

external link
19.

Levinson AK et al. (1990) Familial renal cell carcinoma: hereditary or coincidental?

external link
20.

Sato Y et al. (2013) Integrated molecular analysis of clear-cell renal cell carcinoma.

external link
21.

Hino O et al. (1993) Spontaneous and radiation-induced renal tumors in the Eker rat model of dominantly inherited cancer.

external link
22.

Lott ST et al. (1998) Physical and functional mapping of a tumor suppressor locus for renal cell carcinoma within chromosome 3p12.

external link
23.

Bodmer D et al. (1998) An alternative route for multistep tumorigenesis in a novel case of hereditary renal cell cancer and a t(2;3)(q35;q21) chromosome translocation.

external link
24.

Koolen MI et al. (1998) A familial case of renal cell carcinoma and a t(2;3) chromosome translocation.

external link
25.

Kovacs G et al. (1997) The Heidelberg classification of renal cell tumours.

external link
26.

van den Berg A et al. (1997) Involvement of multiple loci on chromosome 3 in renal cell cancer development.

external link
27.

Teh BT et al. (1997) Familial non-VHL non-papillary clear-cell renal cancer.

external link
28.

Geurts JM et al. (1997) Expression of reciprocal hybrid transcripts of HMGIC and FHIT in a pleomorphic adenoma of the parotid gland.

external link
29.

Motzer RJ et al. (1996) Renal-cell carcinoma.

external link
30.

Lyons AR et al. (1977) Hypernephroma in two brothers.

external link
31.

Fairchild RS et al. (1979) Neuroblastoma, pheochromocytoma, and renal cell carcinoma. Occurrence in a single patient.

external link
32.

Li FP et al. (1993) Clinical and genetic studies of renal cell carcinomas in a family with a constitutional chromosome 3;8 translocation. Genetics of familial renal carcinoma.

external link
33.

Sanchez Y et al. (1994) A tumor suppressor locus within 3p14-p12 mediates rapid cell death of renal cell carcinoma in vivo.

external link
34.

Gnarra JR et al. (1994) Mutations of the VHL tumour suppressor gene in renal carcinoma.

external link
35.

Jakesz R et al. (1978) [Familial bilateral renal-cell carcinoma and cerebellar haemangioma (author's transl)].

external link
36.

Li FP et al. (1982) Familial renal carcinoma.

external link
37.

Pathak S et al. (1982) Familial renal cell carcinoma with a 3;11 chromosome translocation limited to tumor cells.

external link
38.

Neel BG et al. (1982) Two human c-onc genes are located on the long arm of chromosome 8.

external link
39.

Wang N et al. (1984) Involvement of band 3p14 in t(3;8) hereditary renal carcinoma.

external link
40.

Franksson C et al. (1972) Renal carcinoma (hypernephroma) occurring in 5 siblings.

external link
41.

Eleveld MJ et al. (2001) Molecular analysis of a familial case of renal cell cancer and a t(3;6)(q12;q15).

external link
42.

Bodmer D et al. (2003) Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).

external link
43.

Van Erp F et al. (2003) Chromosome 3 translocations and the risk to develop renal cell cancer: a Dutch intergroup study.

external link
44.

Kuiper RP et al. (2003) Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution.

external link
45.

Yamaguchi S et al. (2003) The allelic loss of chromosome 3p25 with c-myc gain is related to the development of clear-cell renal cell carcinoma.

external link
46.

Bodmer D et al. (2002) Understanding familial and non-familial renal cell cancer.

external link
47.

Bodmer D et al. (2002) Cytogenetic and molecular analysis of early stage renal cell carcinomas in a family with a translocation (2;3)(q35;q21).

external link
48.

Braun WE et al. (1975) The association of W17 with familial renal cell carcinoma.

external link
49.

Podolski J et al. (2001) Characterization of a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

external link
50.

Druck T et al. (2001) The DIRC1 gene at chromosome 2q33 spans a familial RCC-associated t(2;3)(q33;q21) chromosome translocation.

external link
51.

Peña-Llopis S et al. (2012) BAP1 loss defines a new class of renal cell carcinoma.

external link
52.

Woodward ER et al. (2000) Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes.

external link
53.

Lovell M et al. (1999) The genetic locus NRC-1 within chromosome 3p12 mediates tumor suppression in renal cell carcinoma independently of histological type, tumor microenvironment, and VHL mutation.

external link
54.

Maranchie JK et al. (2004) Solid renal tumor severity in von Hippel Lindau disease is related to germline deletion length and location.

external link
55.

Gemmill RM et al. (1998) The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8.

external link
56.

Ohta M et al. (1996) The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers.

external link
57.

Cohen AJ et al. (1979) Hereditary renal-cell carcinoma associated with a chromosomal translocation.

external link
58.

Kobayashi T et al. (1995) A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer.

external link
59.

Schimke RN et al. (2010) Paraganglioma, neuroblastoma, and a SDHB mutation: Resolution of a 30-year-old mystery.

external link
60.

Rebouissou S et al. (2005) Germline hepatocyte nuclear factor 1alpha and 1beta mutations in renal cell carcinomas.

external link
61.

Anglard P et al. (1992) Molecular and cellular characterization of human renal cell carcinoma cell lines.

external link
62.

None (2013) Comprehensive molecular characterization of clear cell renal cell carcinoma.

external link
63.

Bertolotto C et al. (2011) A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

external link
64.

Varela I et al. (2011) Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.

external link
65.

Dalgliesh GL et al. (2010) Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.

external link
66.

Shimizu M et al. (1990) Introduction of normal chromosome 3p modulates the tumorigenicity of a human renal cell carcinoma cell line YCR.

external link
67.

Liu J et al. (2009) Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer.

external link
68.

Hoffmann NE et al. (2008) External validation of IMP3 expression as an independent prognostic marker for metastatic progression and death for patients with clear cell renal cell carcinoma.

external link
69.

Poland KS et al. (2007) A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma.

external link
70.

Cascón A et al. (2007) Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.

external link
71.

van der Hout AH et al. (1991) The region of common allelic losses in sporadic renal cell carcinoma is bordered by the loci D3S2 and THRB.

external link
72.

Jiang Z et al. (2006) Analysis of RNA-binding protein IMP3 to predict metastasis and prognosis of renal-cell carcinoma: a retrospective study.

external link
73.

Krambeck AE et al. (2006) B7-H4 expression in renal cell carcinoma and tumor vasculature: associations with cancer progression and survival.

external link
74.

Ogawa O et al. (1991) Allelic loss at chromosome 3p characterizes clear cell phenotype of renal cell carcinoma.

external link
75.

Walker C et al. (1992) Predisposition to renal cell carcinoma due to alteration of a cancer susceptibility gene.

external link
76.

Rodríguez-Perales S et al. (2004) Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement.

external link
77.

Everitt JI et al. (1992) Hereditary renal cell carcinoma in the Eker rat: a rodent familial cancer syndrome.

external link
78.

Ogawa O et al. (1992) Allelic losses at chromosome 17p in human renal cell carcinoma are inversely related to allelic losses at chromosome 3p.

external link
79.

None (1953) Silent adenocarcinoma of the kidney with solitary metastases occurring in brothers.

external link
80.

OMIM.ORG article

Omim 144700 external link
81.

Wikipedia Artikel

Wikipedia DE (Nierenkrebs) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz