Table 1.
Study | Year | Samples | Analytical focus | Results |
---|---|---|---|---|
Clinically driven analyses | ||||
| ||||
Takahashi [39] | 2001 | 29 clear cell | 5 year survival | 51 probes associate with survival, 96% accuracy |
29 normal | ||||
| ||||
Vasselli[40] | 2003 | 51 clear cell | Survival | 45 genes most associated with survival. VCAM-1 alone can stratify patients by survival. |
6 papillary | ||||
1 unknown | ||||
| ||||
Jones [117] | 2005 | 22 clear cell | Progression and metastases | 31 genes that are continuously deregulated in disease progression. 155 genes that associate with metastases, 88.9% accuracy |
10 metastases | ||||
37 other | ||||
24 normal | ||||
| ||||
Kosari [118] | 2005 | 10 aggressive cc | Tumor aggressiveness | 35 genes distinguish between non-aggressive and aggressive tumors. Survivin expression associated with survival by multivariate analysis in 183 patients |
9 non-aggressive cc | ||||
9 metastatic cc | ||||
12 normal | ||||
| ||||
Zhao [47] | 2006 | 177 clear cell | Unsupervised | 2 primary clusters composed of 5 subclusters with survival difference. |
| ||||
Yao [119] | 2008 | 25 clear cell (14 metastatic) | Metastatic vs non- metastatic | 3 genes (VCAM-1, EDNRB, RGS5) that by qRT-PCR associate with survival |
2 metastases | ||||
| ||||
Wuttig[51] | 2009 | 20 metastatic clear cell | Disease-free interval Number of metastases | 306 differentially expressed genes differentiate early (≤ 9 months) versus late (≥5 years) occurring metastases 163 probe sets differentiate patients with multiple (≥16) and “few”( ≤8) metastases |
| ||||
Biology-driven analyses | ||||
| ||||
Vasselli [40] | 2003 | 51 clear cell | Unsupervised | 2 clusters of metastatic tumors with survival difference |
6 papillary | ||||
1 unknown | ||||
| ||||
Skubitz [49] | 2006 | 16 clear cell | Unsupervised | 2 subtypes distinguishable by 546 genes, with possible pathway differences |
21 normal | ||||
| ||||
Zhao [47] | 2006 | 177 clear cell | Survival | 259 genes associated with survival by univariate and multivariate analysis |
| ||||
Gordan [27] | 2008 | 21 clear cell | Wild-type VHL vs H1H2 vs H2 tumors | 3 groups have distinct biological pathways. H2 tumors overexpress c-Myc, leading to increased proliferation |
| ||||
Zhao [48] | 2009 | 177 clear cell | Biology of survival gene set | Good prognosis tumors resemble normal renal cortex or glomerulus. Poor prognosis tumors associated with wound healing and loss of differentiation gene sets. |
| ||||
Brannon [50] | 2010 | 48 clear cell | Unsupervised consensus clustering | 2 subtypes of clear cell (ccA and ccB) with pathway and survival differences, differentiable by <120 probes |
18 normal | ||||
Gene Expression and Cytogenetics/Sequencing Analyses | ||||
| ||||
Furge [31] | 2004 | 60 clear cell | Histological classification by virtual cytogenetics | 1018 gene classifier and cytogenetic classifier to distinguish between 3 subtypes, 99% and 81% accuracy, respectively. |
5 papillary | ||||
16 chromophobe | ||||
| ||||
Sultmann [34] | 2005 | 65 clear cell | Cytogenetics; Metastases and survival | 136 genes significantly associated with cytogenetic abnormalities. 45 genes associated with survival. 85 genes associated with metastasis formation. |
13 papillary | ||||
9 chromophobe | ||||
25 normal | ||||
| ||||
Beroukhim [30] | 2009 | 49 sporadic cc | VHL disease vs sporadic clear cell | VHL disease and sporadic clear cell tumors have similar gene expression and cytogenetic profiles, but sporadic cases have more frequent alterations. |
5 metastases | ||||
36 VHL tumors | ||||
| ||||
Dalgliesh [29] | 2010 | 96 clear cell | Genetics by sequencing | Mutations in histone modification and DNA damage repair genes may be important in RCC development or progression |
cc, Clear Cell; H1H2, HIF-1 and HIF-2 overexpressing; H2, HIF-2 only overexpressing; VHL, von Hippel Lindau