Table 1. Frequency of VHL mutations and VHL depletion of 3p in all renal cancers and in different histologic subtypes of renal cell carcinomas (RCC).
VHL mutation analysis* | 3p deletion analysis | |||||
1–2 exons analyzed | 3 exons analyzed | |||||
n | mutated (%) | n | mutated (%) | n | deletion (%) | |
all cancers | 705 | 63.7 | 431 | 40.6 | 1403 | 43.3 |
clear cell RCC | 515 | 78.3 | 275 | 59.3 | 918 | 57.2 |
papillary RCC | 68 | 19.1 | 58 | 5.2 | 210 | 17.6 |
oncocytoma | 49 | 22.4 | 41 | 7.3 | 118 | 11.9 |
chromophobic RCC | 38 | 18.4 | 32 | 3.1 | 79 | 17.7 |
clear cell (tubulo) papillary RCC | 13 | 84.6 | 5 | 60.0 | 24 | 29.2 |
nephroblastoma | 4 | 0.0 | 4 | 0.0 | 12 | 16.7 |
Xp11.2 translocated carcinoma | 4 | 25.0 | 4 | 25.0 | 10 | 10.0 |
collecting duct carcinoma | 0 | 0 | 3 | 0.0 | ||
metanephrogenic adenoma | 0 | 0 | 3 | 33.3 | ||
tubular cystic RCC | 1 | 0.0 | 1 | 0.0 | 2 | 0.0 |
multilocular cystic renal cell neoplasia of low malignant potential | 2 | 50.0 | 2 | 50.0 | 2 | 50.0 |
acquired renal cystic disease associated RCC | 1 | 0.0 | 1 | 0.0 | 1 | 0.0 |
cystic nephroma/mixed epithelial stromal tumor | 1 | 0.0 | 1 | 0.0 | 1 | 0.0 |
medullary carcinoma | 0 | 0 | 1 | 0.0 | ||
reninoma | 0 | 0 | 1 | 100.0 | ||
n. o. s. | 9 | 22.2 | 7 | 0.0 | 18 | 22.2 |
*analyzing less than 3 exons introduces a bias no succesful analysis for mucinar tubular spindel cell carcinoma neuroendokrine carcinoma.