Hereditary papillary renal cell carcinoma
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A patient is diagnosed with bilateral papillary type 1 renal cell carcinoma. Several family members have had similar kidney tumors.
AD; MET (proto-oncogene)
- Type 1 papillary renal cell carcinoma
- Bilateral/multifocal
- No extrarenal manifestations
- Suspect with bilateral, multifocal type 1 papillary RCC, particularly with a family history of papillary kidney tumors
- Histology shows type 1 papillary RCC; the absence of cutaneous, uterine, or other extrarenal findings helps distinguish it from HLRCC and Birt-Hogg-Dube
- Confirm with germline MET testing (activating proto-oncogene variants)
- Renal surveillance with periodic abdominal imaging (MRI preferred to limit cumulative radiation given the lifelong, multifocal risk)
- Active surveillance of small renal masses with nephron-sparing surgery at a ~3 cm threshold, reflecting the relatively indolent course of type 1 papillary tumors
- MET-directed tyrosine kinase inhibitors are an option for advanced or metastatic disease
- Cascade testing of at-risk relatives