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Hereditary papillary renal cell carcinoma

Written1999-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


Atlas_Id 10053
Genes implicated inMET  
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)


    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


    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 met proto-oncogene (hepatocyte growth factor receptor)
    Location 7q31.2
    Expression wide
    Localisation membrane
    Function transmembrane tyrosine kinase receptor for the hepatocyte growth factor/scatter factor (HGF/SF)
    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


    Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization.
    Bentz M, Bergerheim US, Li C, Joos S, Werner CA, Baudis M, Gnarra J, Merino MJ, Zbar B, Linehan WM, Lichter P
    Cytogenetics and cell genetics. 1996 ; 75 (1) : 17-21.
    PMID 8995481
    Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.
    Fischer J, Palmedo G, von Knobloch R, Bugert P, Prayer-Galetti T, Pagano F, Kovacs G
    Oncogene. 1998 ; 17 (6) : 733-739.
    PMID 9715275
    Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.
    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, Richard S, Lips CJ, Walther MM, Tsui LC, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, Lerman MI, Linehan WM, Zbar B
    Nature genetics. 1997 ; 16 (1) : 68-73.
    PMID 9140397
    Hereditary papillary renal cell carcinoma: clinical studies in 10 families.
    Zbar B, Glenn G, Lubensky I, Choyke P, Walther MM, Magnusson G, Bergerheim US, Pettersson S, Amin M, Hurley K
    The Journal of urology. 1995 ; 153 (3 Pt 2) : 907-912.
    PMID 7853572
    Hereditary papillary renal cell carcinoma.
    Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M, Linehan WM
    The Journal of urology. 1994 ; 151 (3) : 561-566.
    PMID 8308957


    This paper should be referenced as such :
    Huret, JL
    Hereditary papillary renal cell carcinoma
    Atlas Genet Cytogenet Oncol Haematol. 1999;3(2):108-109.
    Free journal version : [ pdf ]   [ DOI ]
    On line version :

    Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

    Genes HGF MET

    External links

    OrphanetClear cell papillary renal cell carcinoma
    Other databaserenal cell carcinoma /diseases/9572/papillary-renal-cell-carcinoma (GARD)
    Genes implicated inMET   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

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