Clear cell renal cell carcinoma

Updated on Oct 12, 2024

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The Clear Cell Renal Cell Carcinoma (CCRCC) is a type of Renal cell carcinoma.

Epidemiology

Most commonly affects male patients in their sixties and seventies.

Majority of CCRCC arise sporadically.

Only 2 – 4% of the cases presenting as part of an inherited cancer syndrome, as von Hippel-Lindau syndrome.

Generally, the cells have a clear cytoplasm, are surrounded by a distinct cell membrane and contain round and uniform nuclei.

Alterations of chromosome 3p segments occurs in 70 – 90% of CCRCCs

Inactivation of von Hippel-Lindau disease (VHL) gene by gene mutation and promoter hypermethylation

Gain of chromosome 5q

Loss of chromosomes 8p, 9p, and 14q

Several frequently mutated genes were discovered in CCRCC: VHL, KDM6A/UTX, SETD2, KDM5C/JARID1C and MLL2.

CCRCC is derived from the proximal convoluted tubule.

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