Hereditary papillary renal cell carcinoma

1999-04-01   Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

Name

Hereditary papillary renal cell carcinoma

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 Blooms, but the overexpression of the mutant allele through (acquired) chromosome imbalance (see below)

    Omim

    605074

    Orphanet

    404511 Clear cell papillary renal cell carcinoma

    Umls

    -

    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

    Genes involved and Proteins

    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

    To be noted

    Hgmd

    120178

    Bibliography

    Pubmed IDLast YearTitleAuthors
    89954811996Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization.Bentz M et al
    97152751998Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours.Fischer J et al
    91403971997Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas.Schmidt L et al
    78535721995Hereditary papillary renal cell carcinoma: clinical studies in 10 families.Zbar B et al
    83089571994Hereditary papillary renal cell carcinoma.Zbar B et al

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