| Written | 1999-04 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Atlas_Id | 10053 |
| Genes implicated in | MET |
| 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 |
| Bibliography |
| 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 |
| Citation |
| 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 : http://AtlasGeneticsOncology.org/Tumors/papilrenalkpronID10053.html |
| External links |
| OMIM | 605074 |
| Orphanet | Clear cell papillary renal cell carcinoma |
| UMLS | - |
| ICD-10 | C64 |
| HGMD | 120178 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:24:32 CEST 2017 |
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