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Hereditary papillary renal cell carcinoma

Identity

Note other (well known) classes of inherited renal cell carcinomas are:
  • the Von Hippel-Lindau syndrome, and
  • the Lynch syndrome II
  • Inheritance some familly trees resemble autosomal recessive transmission (affected sibs with unaffected parents), other exhibit typical autosomal dominant trasmission with a vertical parent-to-child pattern; the situation is not that of (recessive) tumour suppressor genes as in the retinoblastoma, nor that of a recessive DNA replication/repair gene like in Bloom's, but the overexpression of the mutant allele through (acquired) chromosome imbalance (see below)

    Clinics

    Note no phenotypic sign
    Neoplastic risk multiple and/or bilateral papillary renal cell carcinomas, with median age 45 yrs at diagnosis (range 18-79 yrs, most cases being between 35 and 55 yrs old), sex ratio 29M/12F, the presence of asymptomatic cases (mutations have also been detected in tumour-free individuals in these pedigrees pointing to a low expressivity), and still a median age at death of affected individuals at 52 yrs

    Cytogenetics

    Note similar to what is found in sporadic papillary renal cell carcinoma, in particular trisomy 7 and 17

    Other findings

    Note no loss of heterozygosity at loci on 3p in the tumours; this contrasts with clear-cell renal cell carcinomas which are associated with deletions of 3p

    Genes involved and Proteins

     
    Gene NameMET
    Location 7q31
    Protein
    Expression wide
    Localisation membrane
    Function transmembrane tyrosine kinase receptor for the hepatocyte growth factor/scatter factor (HGF/SF)
    Mutations
    Germinal found mutated in half of the cases of hereditary papillary renal cell carcinoma so far studied; mutations were in exons 16-19 (tyrosine kinase domain); cases without a detected mutation may either have a mutation in non-tested parts of MET, or mutations in another gene
    Somatic the mutant MET allele is duplicated (via the trisomy 7) in the tumours; might lead to a constitutive kinase activation

    External links

    GeneCardsMET
    GDBMET
    OMIM164860
    HGMD120178

    Bibliography

    Hereditary papillary renal cell carcinoma.
    Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM Lerman M, Linehan WM.
    J Urol 1994; 151: 561-566.
    PMID 8308957
     
    Hereditary papillary renal cell carcinoma: clinical studies in 10 families.
    Zbar B, Glenn G, Luensky I, Choyke P, Walther MM, Magnusson G, Bergerheim USR, Pettersson S, Amin M, Hurley K, Linehan WM.
    J Urol 1995; 153: 907-912.
    PMID 7853572
     
    Chromosome imbalances in papillary renal cell carcinoma and first cytogenetical data of familial cases analysed by comparative genomic hybridization
    Bentz M, Bergerheim USR, Li C, Joos S, Werner CA, Baudis M, Gnarra J, Merino MJ, Zbar B, Lineham WM, Lichter P. .
    Cytogenet. Cell Genet. 1996; 75: 17-21.
    PMID 8995481
     
    Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
    Schmidt L, Duh FM, Chen F, et al.
    Nature Genetics 1997; 16: 68-73.
    PMID 9140397
     
    Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.
    Fischer J, Palmedo G, Knobloch RV, Bugert P, Prayer-Galetti T, Pagano F, Kovacs G.
    Oncogene 1998; 17: 733-739.
    PMID 9715275
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Contributor(s)

    Written04-1999Jean-Loup Huret

    Citation

    This paper should be referenced as such :
    Huret JL . Hereditary papillary renal cell carcinoma. Atlas Genet Cytogenet Oncol Haematol. April 1999 .
    URL : http://AtlasGeneticsOncology.org/Kprones/papilrenalkpron10053.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Thu Apr 17 14:14:14 2008


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