Table 1.
VHL and TP53 mutations and CA9, GLUT1 and HIF1α immunohistochemistry in sporadic cases of human ccRCC
| pT | VHL sequencing | Immunohistochemistry | TP53 sequencing | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Exon 1 | Exon 2 | Exon 3 | CA9 | Glut1 | HIF1α | Exon 5 | Exon 6 | Exon 7 | Exon 8 | |
| 3 | – | – | A207CfsX49 | 2 | 0 | 0 | – | – | – | – |
| 3b | – | T124RfsX5 | – | 2 | 2 | 1 | – | – | – | – |
| 3 | – | H115SfsX17 | – | 2 | 1 | 0 | – | – | – | – |
| 3b | N78S | – | – | 2 | 2 | 1 | n.a. | – | – | – |
| 3b | – | – | – | 1 | 2 | 0 | K139K | – | – | – |
| 3a | – | V155CfsX4 | – | 2 | 0 | 2 | – | – | – | – |
| 3b | – | – | – | 1 | 0 | n.a. | Q165X | – | – | – |
| 3 | – | – | – | 2 | 1 | 1 | n.a. | – | – | – |
| 3b | – | – | R167_V170del | 2 | 2 | 2 | – | – | – | – |
| 3a | – | – | – | 1 | 1 | 1 | – | – | – | – |
| 3b | P99QfsX60 | – | – | 2 | 2 | 1 | – | R213R | – | – |
| 3b | S68T | – | – | 2 | 2 | 0 | – | – | – | – |
| 3a | – | – | – | 0 | 1 | 0 | – | – | – | – |
| 3 | S65T | – | – | 2 | 2 | 0 | – | – | – | – |
| 3a | – | – | I180V | 2 | 2 | 2 | – | – | – | – |
| 3 | – | V130F | – | 2 | 1 | 0 | – | – | L257L | – |
| 3b | – | L153TfsX21 | – | 2 | 1 | 1 | – | R142R | – | – |
| 4 | – | – | V170D | 2 | 2 | 1 | – | – | – | – |
| 3a | – | – | L158V | 2 | n.a. | 0 | – | – | – | – |
| 3a | – | – | H191H | 2 | 2 | 0 | – | P219L | – | – |
| 3a | – | – | – | 2 | 2 | 0 | H179L | – | – | – |
| 3a | – | W117R | – | 2 | 2 | 2 | – | – | – | – |
| 3b | – | – | R161P | 0 | 0 | 1 | – | – | – | – |
| 4 | Y98X | – | – | 0 | 2 | 1 | – | – | – | – |
| 3a | T100SfsX59 | – | – | 2 | 2 | 2 | – | – | – | – |
| 4 | – | – | – | 0 | 2 | n.a. | – | – | – | – |
| 3a | – | – | – | 2 | 2 | 0 | – | – | – | – |
| 3 | L101P | – | – | 2 | 2 | 0 | – | – | – | – |
| 3a | – | – | – | 2 | 2 | 1 | – | – | – | – |
| 3a | Y112D | – | – | n.a. | n.a. | 0 | – | – | – | – |
| 3b | D92AfsX36 | – | – | 2 | 2 | 0 | – | – | – | – |
| 3b | V62CfsX5 | – | – | 1 | n.a. | 0 | – | – | – | – |
| 3 | – | – | – | 1 | 2 | 0 | – | – | – | – |
| 3b | c.340 + 1G>T | – | – | 2 | 2 | 0 | – | – | – | – |
| 3 | S65L | – | – | 2 | 2 | 1 | – | – | – | – |
| 3 | – | c.341-2A>G | – | 2 | 2 | 0 | – | – | – | – |
| 3a | – | – | – | 2 | 2 | 1 | – | – | – | – |
| 4 | S68X | – | – | 2 | 2 | 0 | – | – | – | – |
| 3b | Y98N | – | – | 2 | 1 | 0 | – | R213R | – | – |
| 3b | S68X | – | – | 2 | 2 | 0 | – | – | – | – |
| 3b | R107VfsX45 | – | – | 2 | 2 | 1 | – | – | – | – |
| 3b | Q73X | – | – | 0 | 2 | 0 | – | – | – | R273C |
| 3a | – | – | R161X | 2 | n.a. | 1 | – | – | – | – |
| 3b | – | – | V181KfsX14 | n.a. | n.a. | 0 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 2 | 2 | 0 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 2 | 2 | 0 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 2 | 2 | 1 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 0 | 1 | 1 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 2 | 2 | 2 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 0 | 1 | 1 | – | – | – | – |
| 2 | n.d. | n.d. | n.d. | 2 | 1 | 1 | – | – | – | – |
| 4 | n.d. | n.d. | n.d. | 2 | 2 | 0 | – | 1bp ins* | – | – |
| 3 | n.d. | n.d. | n.d. | 1 | 2 | 1 | – | – | – | – |
| 3 | n.d. | n.d. | n.d. | 2 | 1 | 1 | – | – | – | – |
Grey shading highlights a mutation that causes a coding alteration. Amino acid alterations are shown by single letter code, del = deletion, fs = frame shift, X = new stop codon, n.a. = not analysable, n.d. = not determined, * = bp insertion not identifiable, 0 = no staining, 1 = moderate staining, 2 = strong staining.