Publicación:

Synchronous and multiple renal cell carcinoma, clear cell and papillary: An approach to clinically significant genetic abnormalities

Resumen

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.