Hereditary Papillary Renal Cell Carcinoma
HPRC (OMIM#605074, ORPHA:47044) is a cancer predisposition syndrome associated with the development of bilateral and multifocal type 1 papillary renal cell carcinoma in adults, at an early age (mean age <45). Extra-renal manifestations have not been reported to date. Penetrance is discordant in published reviews. HPRC is a very rare condition, prevalence is unknown and could be estimated as less than 1 in 100,000.
HPRC is caused by a germline heterozygous pathogenic variant in MET proto-oncogene. All germline MET pathogenic variants reported to date are missense variants in the tyrosine kinase domain which activate MET signalling pathway.
HPRC is inherited in an autosomal dominant manner, meaning that each child of an affected individual has a 50% chance to inherit the familial pathogenic variant in MET gene and is at risk of developing disease. Preimplantation and prenatal genetic testing are possible if the causal familial variant has been identified (different legal/ethical perspectives could exist).
At-risk individuals should undergo periodic kidney imaging. Renal ultrasonography and CT scan are inadequate to detect papillary tumours and MRI is recommended Nephron-sparing surgery is considered when the largest tumour reaches 3 cm. There are ongoing clinical trials on MET inhibitors for the treatment of papillary renal carcinoma.
More information regarding Hereditary Papillary Renal Cell Carcinoma can be found on:
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ERN GENTURIS webinars - Thematic group 4: Other rare genturis
ERN GENTURIS webinars - General
A list of healthcare providers with expertise in Thematic Group 4: Other rare - predominantly malignant - genturis can be found here.
A non-exhaustive list of patient associations for genetic tumour risk syndromes in EU member states can be found here.