Pathological characteristics and genetic background of renal cell carcinoma

• Published in: Magyar onkologia Vol. 67; no. 1; p. 7
• Main Authors: Sánta, Fanni, Pósfai, Boglárka, Sejben, Anita, Kuthi, Levente
• Format: Journal Article
• Language: Hungarian
• Published: Hungary 22.04.2023
• Subjects: Adult; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Chromosome Aberrations; Genetic Background; Humans; Kidney Neoplasms - genetics; Kidney Neoplasms - pathology; Mutation
• ISSN: 2060-0399

Renal cell carcinoma (RCC) is the most common malignant kidney tumor. It is not a single entity but an umbrella term for several distinct tumor types. The most prevalent and clinically significant subtype of RCC is clear cell carcinoma, which consists of cells with empty cytoplasm. These tumor cells harbor biallelic loss of the VHL gene, resulting in a pseudohypoxic state that promotes angiogenesis and cellular proliferation. Papillary RCC and chromophobe carcinoma are also common subtypes, with the former displaying a papillary appearance and cMET mutation. The latter is characterized by eosinophilic tumor cells and multiple chromosomal losses. These subtypes are responsible for 90-95% of all kidney cancers in adults. Additionally, rare tumor subtypes with unique immunohistochemical features, genetic abnormalities, or a specific clinical course may be identified. Currently, the RCC subtype only holds prognostic significance, and no treatment is associated with any subtype. However, therapies associated with histological subtypes may emerge in the future, and thus, the diagnosis of RCCs should be made following current recommendations.