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Hereditary papillary renal cell carcinoma
Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas.
ORPHA:47044Classification level: Disorder
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: Adult
- ICD-10: C64
- OMIM: 605074
- UMLS: C0879257 C2931899
- MeSH: C538614
- GARD: -
- MedDRA: -
The annual worldwide incidence of renal cell carcinomas (RCCs) is estimated at around 1 in 50,000. Papillary carcinomas represent 10-15% of all RCCs but the annual incidence of familial RCC syndromes is less than 1 in 1,500,000.
The syndrome is associated with germline mutations in the MET proto-oncogene (7q31) encoding a hepatocyte growth factor-responsive tyrosine kinase receptor. Tumourigenesis in HPRC patients is most frequently thought to be associated with non-random duplication of the chromosome 7 carrying the mutated MET allele, but other chromosome imbalances have also been detected in tumours from HPRC families.
Diagnosis is suspected on the basis of a family history of papillary renal cell carcinomas and can be confirmed by detection of a germline mutation in the MET gene.
HPRCC appears to be transmitted as an autosomal dominant trait with reduced penetrance.
Management and treatment
Management should include regular surveillance to allow early detection of carcinomas. Treatment options depend on the stage of the cancer at diagnosis. In 2006, the protein kinase inhibitor sorafenib obtained EU marketing authorisation as a second line treatment for advanced stage renal cell carcinoma and may be used for the treatment of HPRCC.
Although 5-year survival rates for patients with RCC have improved in recent years, the outcome for patients with advanced stage disease remains poor.
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