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VHL-associated renal cell carcinoma

Thursday 22 March 2012


Germline mutations in the VHL tumor suppressor gene cause von Hippel-Lindau (VHL) disease and somatic VHL mutations occur in the majority of clear cell renal cell carcinoma (cRCC).

In VHL, cRCC GISTIC analysis identified four statistically significant regions of copy number gain and four statistically significant regions of deletion that occurred in >10% of tumors analyzed.

Sporadic cRCC without detectable VHL mutations had, on average, more copy number abnormalities than VHL cRCC though the most common regions of loss/gain (e.g., 3p and 14q loss and 5q gain) were present in both tumor sets. (21456047)

However, CNAs on chromosome arms 7p (7p gain) and 8p (8p loss) were only detected in VHL RCC. (21456047)

Although individual copy number abnormality peaks contained clear candidate cancer genes in some cases (e.g., the 3p loss peak in VHL cRCC contained only six genes including VHL), most peaks contained many genes. (21456047)

Only a minority of the candidate genes included in these peaks have been analyzed for mutation or epigenetic inactivation in cRCC but TNFRSF10C and DUSP4 map to the 8p region deleted in VHL cRCC and TP53 and HIF2A (EPAS1) mapped to CNA loss and gain peaks (chromosomes 17 and 2, respectively) detected in sporadic VHL wild-type cRCC. (21456047)

See also

- VHL-associated tumors

  • - VHL-associated renal tumors


- Copy number profiling in von Hippel-Lindau disease renal cell carcinoma. Shuib S, Wei W, Sur H, Morris MR, McMullan D, Rattenberry E, Meyer E, Maxwell PH, Kishida T, Yao M, Latif F, Maher ER. Genes Chromosomes Cancer. 2011 Jul;50(7):479-88. PMID: 21456047