Table 2.
Mutation characteristic of tumour | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|
Tumour type | Original Dx (n) | GCT | CB | ABC | WT | aRevised diagnosis (n) | ||||
G34W/A (n) | G34L/A (n) | G34R/A (n) | G34M/A (n) | K36/A (n) | K36/B (n) | USP6 (n) | ||||
GCT | 91 | 83 | 0 | 1 | 1 | 0 | 0 | 2 | 4 | 89 |
GCT of small bones | 25 | 14 | 2 | 0 | 0 | 0 | 0 | 3 | 6 | 21 |
CB | 7 | 0 | 0 | 0 | 0 | 5 | 2 | 0 | 0 | 7 |
ABC | 44 | 2 | 0 | 0 | 0 | 0 | 1 | 32 | 9 | 41 |
NOF | 66 | 4 | 0 | 0 | 0 | 0 | 0 | 0 | 62 | 62 |
Tenosynovial giant cell Tumour | 51 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 51 | 51 |
Osteoblastoma | 21 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 21 | 21 |
Osteoid osteoma | 9 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 9 | 9 |
Giant cell granuloma of jaw (solitary) | 78 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 78 | 78 |
Adamantinoma | 8 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 8 | 8 |
Osteofibrous dysplasia | 6 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 6 | 6 |
Total no of mutations | 103 | 2 | 1 | 1 | 5 | 3 | 37 | 252 |
Diagnosis revised following review of histology and imaging on discovery of the genetic alterations