Hereditary papillary renal cell carcinoma

other (well known) classes of inherited renal cell carcinomas are:

the Von Hippel-Lindau syndrome, and

the Lynch syndrome II

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)

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404511 Clear cell papillary renal cell carcinoma

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no phenotypic sign

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

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

wide

membrane

transmembrane tyrosine kinase receptor for the hepatocyte growth factor\/scatter factor (HGF\/SF)

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

the mutant MET allele is duplicated (via the trisomy 7) in the tumours; might lead to a constitutive kinase activation

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