Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities
Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases an...
- Autores:
-
Cifuentes Cardona, Laura Fernanda
Martínez, Carlos Humberto
García Perdomo, Herney Andrés
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2020
- Institución:
- Universidad Cooperativa de Colombia
- Repositorio:
- Repositorio UCC
- Idioma:
- OAI Identifier:
- oai:repository.ucc.edu.co:20.500.12494/32803
- Acceso en línea:
- https://doi.org/10.1590/s1677-5538.ibju.2019.0015
https://hdl.handle.net/20.500.12494/32803
- Palabra clave:
- carcinoma renal
variantes genéticas
significancia clínica
renal cell carcinoma
genetic variant
clinical significance
- Rights
- openAccess
- License
- Atribución – No comercial – Sin Derivar
| Summary: | Renal Cell Cancer (RCC) is a heterogeneous disease that is characterized by distinct pathological phenotypes due to the differences in genetic alterations and signaling pathways affected (1). Bilateral renal tumors are often thought to be familial, however, they are only found in 14% of RCC cases and 4% of von Hippel-Lindau disease (VHL) cases. Therefore, most people with bilateral kidney tumors might have sporadic tumors caused by somatic mutations (2). These figures suggest that a deep genomic study is fundamental for understanding the cause of this disease. The objective of this report was to describe a clinical case of a patient with bilateral kidney tumors of different subtypes, and how the genetic abnormalities found in this patient relate to the clinical phenotype. |
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