Biomedical
Various Histological Types of Renal Cell Carcinoma Associated With Hereditary Papillary Renal Cell Carcinoma (HPRCC): a Case Report
Sophie FERLICOT,
Abstract
Background: Hereditary papillary renal cell carcinoma (HPRCC) is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas (RCC) and papillary adenomas caused by activating mutations in the MET proto-oncogene. Classically, distinctive histological features of RCC are described according to the familial renal cell carcinoma syndrome. To date, no clear cell RCC has been reported in HPRCC syndrome. Case presentation: We describe the case of a 51-year-old man with a germline MET mutation, who developed numerous papillary tumors but also unexpectedly clear cell renal cell carcinomas. During the follow-up, an adrenal metastasis was observed seven years after the initial diagnosis corresponding to a clear cell RCC metastasis. Using FISH, the metastatic tumor presented a trisomy of chromosomes 7 and 17. These genomic alterations are usually detected in papillary RCC, highlighting the potential link between both histological subtypes of tumors and the HPRCC syndrome. Conclusions: The pathologist must be aware that the presence of a non-papillary RCC associated with numerous papillary tumors should not exclude the diagnostic suspicion of HPRCC and thus to perform a thorough genomic study.
Key Questions
What is Hereditary Papillary Renal Cell Carcinoma (HPRCC)?
HPRCC is a rare autosomal dominant disease characterized by the development of multiple and bilateral papillary type I renal cell carcinomas and papillary adenomas, caused by activating mutations in the MET proto-oncogene.
What was unique about the case presented in the article?
The case involved a 51-year-old man with a germline MET mutation who developed not only numerous papillary tumors but also unexpected clear cell renal cell carcinomas, which had not been previously reported in HPRCC syndrome.
What are the implications of this case for pathologists?
Pathologists should be aware that the presence of non-papillary RCC associated with numerous papillary tumors should not exclude the diagnostic suspicion of HPRCC, and a thorough genomic study is recommended in such cases.
