| Identity |
| Note | other (well known) classes of inherited renal cell carcinomas are: |
| 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 Name | MET |
| 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 |
| GeneCards | MET |
| GDB | MET |
| OMIM | 164860 |
| HGMD | 120178 |
| 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 articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-1999 | Jean-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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