Table 2.
TSC mutations in Renal Cell Carcinoma detected in the AACR Project GENIE Public Cohort
| Renal Oncocytoma (n=23) |
Clear Cell RCC (n=463) |
Renal Angiomyolipoma (n=13) |
Unclassified RCC (n=72) |
Papillary RCC (n=96) |
RCC, Not Otherwise Specified (n=145) |
Chromophobe RCC (n=51) |
Renal Medullary Carcinoma (n=43) |
Renal Small Cell Carcinoma (n=1) |
|
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Total TSC-Mutated Cases/Pts | 2 (8.7%) | 35 (7.6%) | 13 (100%) | 11 (15.3%) | 7 (7.3%) | 6 (4.1%) | 3 (5.9%) | 1 (2.3%) | 1 (100%) |
|
| |||||||||
| TSC1-Mutated | 2 (8.7%) | 24 (5.2%) | 1 (7.7%) | 6 (8.3%) | 2 (2.6%) | 2 (1.4%) | 0 | 1 (2.3%) | 0 |
| TSC2-Mutated | 0 | 11 (2.4%) | 12 (92.3%) | 5 (6.9%) | 5 (5.2%) | 4 (2.8%) | 3 (5.9%) | 0 | 1 (100%) |
|
| |||||||||
| TSC1 Mutations | n=3 | n=24 | n=1 | n=7 | n=2 | n=2 | n=0 | n=1 | n=0 |
|
| |||||||||
| Frameshift | 2 | 9 | 0 | 3 | 1 | 2 | 0 | 1 | 0 |
|
| |||||||||
| Nonsense | 0 | 7 | 1 | 2 | 0 | 0 | 0 | 0 | 0 |
|
| |||||||||
| Splice site | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 0 | 0 |
|
| |||||||||
| Missense | 1 | 7 | 0 | 0 | 1 | 0 | 0 | 0 | 0 |
|
| |||||||||
| TSC2 Mutations | n=0 | n=11 | n=13 | n=8 | n=5 | n=5 | n=3 | n=0 | n=1 |
|
| |||||||||
| Frameshift | 0 | 0 | 6 | 2 | 0 | 0 | 0 | 0 | 0 |
|
| |||||||||
| Nonsense | 0 | 0 | 3 | 1 | 0 | 0 | 0 | 0 | 1 |
|
| |||||||||
| Splice site | 0 | 1 | 2 | 1 | 1 | 0 | 1 | 0 | 0 |
|
| |||||||||
| Missense | 0 | 10 | 2 | 4 | 4 | 5 | 2 | 0 | 0 |
This query of the AACR Project GENIE Public Cohort (GENIE, 2018) v3.0.042 was performed using cBioPortal for Cancer Genomics (www.cbioportal.org)40,41 accessed on Feb 15, 2018. Metastatic lesions from primary-metastatic paired samples were excluded from the mutation counts if they contained identical mutations to the primary lesion.