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Clear cell and papillary renal cell carcinomas in hereditary papillary renal cell carcinoma (HPRCC) syndrome: a case report.
- Source :
-
Diagnostic pathology [Diagn Pathol] 2021 Nov 20; Vol. 16 (1), pp. 107. Date of Electronic Publication: 2021 Nov 20. - Publication Year :
- 2021
-
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.<br />Case Presentation: We describe the case of a 51-year-old man with a germline MET mutation detected on peripheral blood testing, and no germline VHL mutation, who developed numerous papillary tumors but also unexpectedly clear cell renal cell carcinomas. During the follow-up, an adrenal metastasis was observed 7 years after the initial diagnosis corresponding to a clear cell RCC metastasis. By immunohistochemistry, clear cell tumors showed focal cytokeratin 7, moderate racemase, and diffuse and membranous CAIX expression, while papillary tumors expressed strong diffuse cytokeratin 7 and racemase without CAIX positivity. Using FISH, VHL deletion was observed in one of the clear cell tumors, and the metastatic clear cell tumor presented a trisomy of chromosomes 7 and 17. These last genomic alterations are usually detected in papillary RCC, highlighting the potential link between both histological subtypes of tumors and the HPRCC syndrome.<br />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.<br /> (© 2021. The Author(s).)
- Subjects :
- Biomarkers, Tumor analysis
Carcinoma, Renal Cell chemistry
Carcinoma, Renal Cell secondary
Carcinoma, Renal Cell therapy
DNA Mutational Analysis
Genetic Predisposition to Disease
Humans
Immunohistochemistry
In Situ Hybridization, Fluorescence
Kidney Neoplasms chemistry
Kidney Neoplasms pathology
Kidney Neoplasms therapy
Male
Middle Aged
Neoplastic Syndromes, Hereditary metabolism
Neoplastic Syndromes, Hereditary pathology
Neoplastic Syndromes, Hereditary therapy
Phenotype
Biomarkers, Tumor genetics
Carcinoma, Renal Cell genetics
Germ-Line Mutation
Kidney Neoplasms genetics
Neoplastic Syndromes, Hereditary genetics
Proto-Oncogene Proteins c-met genetics
Von Hippel-Lindau Tumor Suppressor Protein genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1746-1596
- Volume :
- 16
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Diagnostic pathology
- Publication Type :
- Report
- Accession number :
- 34801057
- Full Text :
- https://doi.org/10.1186/s13000-021-01170-8