Case reports in urology
Genetic Heterogeneity in Renal Cell Carcinoma: A Case of Concurrent Clear Cell and Papillary Renal Carcinomas
By Kerckhofs A, Dautricourt S, van Kempen L and 2 others.
Abstract
Background/objectives
Recent advancements in genetic research have significantly enhanced the understanding of renal cell carcinoma (RCC), now recognized as a heterogeneous group with distinct genetic features. This case report is aimed at illustrating its genetic diversity and implications for diagnosis and treatment.
Methods
A middle-aged man presented with an incidental finding of RCC in the right kidney on computer tomography (CT) performed for a persistent cough. Comprehensive radiological and blood tests were conducted, followed by a total right nephrectomy. Histological examination showed a concurrent appearance of two manifestly different tumors in the kidney. Molecular analyses, including SNP array and next-generation sequencing (NGS), were conducted to identify genetic mutations and assess clonality.