Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres papilläres Nierenzellkarzinom

Das familiäre papilläre Nierenzellkarzinom ist eine Disposition zur bilateralen multifokalen Ausbildung dieser Tumoren die auf genetische Ursachen beruht. Entweder einer Translokation im PRCC oder beim Typ 1 einer Mutation im MET-Gen.

Gliederung

Hereditäre Nierentumoren
Hereditäre Leiomyomatose mit Nierenzellkarzinom
Hereditäres papilläres Nierenzellkarzinom
Hereditäres papilläres Nierenzellkarzinom 1
MET
PRCC
Nichtpapilläres Nierenzellkarzinom
Wilms-Tumor
von Hippel-Lindau-Syndrom

Referenzen:

1.

Schmidt L et. al. (1997) Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.

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2.

Zhuang Z et. al. (1998) Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas.

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3.

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

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4.

Cohen HT et. al. (2005) Renal-cell carcinoma.

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5.

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

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6.

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.

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7.

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

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8.

Mancilla-Jimenez R et. al. (1976) Papillary renal cell carcinoma: a clinical, radiologic, and pathologic study of 34 cases.

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9.

Kovacs G et. al. (1991) Cytogenetics of papillary renal cell tumors.

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10.

Zbar B et. al. (1995) Hereditary papillary renal cell carcinoma: clinical studies in 10 families.

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11.

None (1993) Molecular cytogenetics of renal cell tumors.

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12.

Zbar B et. al. (1994) Hereditary papillary renal cell carcinoma.

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13.

Fischer J et. al. (1998) Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.

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14.

Balint I et. al. (1999) Mapping the papillary renal cell carcinoma gene between loci D17S787 and D17S1799 on chromosome 17q21.32.

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15.

Kuroda N et. al. (2003) Review of papillary renal cell carcinoma with focus on clinical and pathobiological aspects.

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16.

Yang XJ et. al. (2005) A molecular classification of papillary renal cell carcinoma.

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17.

None (2011) Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.

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Update: 28. März 2018