RESUMEN
By integrating genetic data into the traditional histology and immunohistochemistry-based classification system, the revised WHO classification of malignant tumors (2004) defined additional renal cell carcinoma subtypes, thereby enabling the application of additional diagnostic procedures.
Asunto(s)
Carcinoma de Células Renales/patología , Técnicas Histológicas/métodos , Neoplasias Renales/patología , Manejo de Especímenes/métodos , Humanos , Clasificación Internacional de Enfermedades , Estadificación de Neoplasias , Organización Mundial de la SaludRESUMEN
The approval of new therapeutic procedures for the three main malignancies of the urogenital tract in recent years has generated a need for personalization of urooncology. As a consequence the diagnostic procedures are no longer limited to histology and immunohistochemistry but also include the analysis of genetic alterations (mutations and chromosomal aberrations).
Asunto(s)
Técnicas de Diagnóstico Urológico , Pruebas Genéticas/métodos , Patología Molecular/métodos , Medicina de Precisión/métodos , Neoplasias Urogenitales/diagnóstico , Neoplasias Urogenitales/genética , HumanosRESUMEN
Renal cell carcinomas occur in several hereditary tumor syndromes. These renal tumors frequently have a specific histopathological appearance which can be a sign for a hereditary cause of the disease. The genetic alterations responsible for most of these tumor syndromes were identified in recent years. Interestingly, renal cell carcinomas show specific histopathological features in each of the hereditary renal cancer syndromes. Clear cell and often cystic renal cell carcinomas occur in von Hippel-Lindau syndrome (VHL), while oncocytomas and chromophobe renal cell carcinomas are found in the Birt-Hugg-Dube syndrome, often also as hybrid tumors. Well differentiated papillary carcinomas (Type 1 according to the WHO) are found in the hereditary papillary renal cell carcinoma (HPRC). In contrast, poorly diffentiated papillary renal cell carcinomas (Type 2 according to the WHO) occur in combination with leiomyomas and leiomyosarcomas of the skin and uterus in hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC). The various genetic causes for these hereditary tumor syndromes open up new therapeutic possibilities, some of which are already being investigated in clinical studies.