Clinical, molecular, and pathologic features of cases with CLTC::SYK fusions
| . | This study . | Prior reports . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Case no. | 2 | 8 | 9 | 10 | 11 | 12 | G1 | C1 | C2 | C3 |
| Clinical features | ||||||||||
| Age at diagnosis, months | 2 | 5 | 5 | 7 | 9 | 12 | 6 | 1 | 2 | 15 |
| Sex | M | F | F | F | M | M | F | ? | F | F |
| Location soft tissue tumor | Forearm | Scalp | Groin | Chest wall | Abdom wall | Upper leg | Scap region | Chest wall | Upper arm | Scalp |
| Progression/relapse | No | No | No | No | No | No | No | No | No | No |
| Follow-up, years | 12.1 | 25.3 | 0.03 | 13.5 | 0.6 | 0.03 | 0.3 | 1.4 | 1.7 | 4.0 |
| Fusion detection | ||||||||||
| DNA sequencing | + | + | + | + | + | + | NP | + | + | + |
| Breakpoint-specific PCR | + | + | + | + | + | + | NP | NP | NP | NP |
| RNA sequencing | NP | NP | + | + | Failed | + | + | + | Failed | NP |
| SYK FISH | Failed | + | + | + | Failed | + | NP | + | + | + |
| CNV analysis | − | − | − | − | − | − | NP | NP | − | NP |
| Pathologic features | ||||||||||
| Touton giant cells | No | No | No | No | No | No∗ | No | No | No | No |
| CD68 | + | + | + | + | + | + | + | + | + | + |
| PU.1 | + | + | + | + | + | + | ||||
| CD14 | + | + | + | + | + | + | + | |||
| CD163 | + | + | + | + | + | + | + | |||
| CD4 | dim+ | dim+ | dim+ | dim+ | dim+ | + | + | |||
| OCT2 | −/bl | −/bl | −/bl | −/bl | −/bl | −/bl | ||||
| S100 | − | − | − | − | − | − | − | − | − | − |
| CD1a | − | − | − | − | − | − | − | − | − | − |
| Cyclin D1 | + | + | + | + | + | + | + | |||
| SYK | + | + | + | + | + | + | ||||
| p-SYK | + | + | + | + | + | + | ||||
| p-S6 | + | + | + | + | + | + | ||||
| p-ERK | rare+ | rare+ | rare+ | rare+ | + | + | ||||
| p-AKT | − | − | − | − | − | − | ||||
| Cytokeratin AE1/3 | − | − | − | − | − | − | − | |||
| (Smooth muscle) actin | − | − | − | − | − | − | − | |||
| . | This study . | Prior reports . | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Case no. | 2 | 8 | 9 | 10 | 11 | 12 | G1 | C1 | C2 | C3 |
| Clinical features | ||||||||||
| Age at diagnosis, months | 2 | 5 | 5 | 7 | 9 | 12 | 6 | 1 | 2 | 15 |
| Sex | M | F | F | F | M | M | F | ? | F | F |
| Location soft tissue tumor | Forearm | Scalp | Groin | Chest wall | Abdom wall | Upper leg | Scap region | Chest wall | Upper arm | Scalp |
| Progression/relapse | No | No | No | No | No | No | No | No | No | No |
| Follow-up, years | 12.1 | 25.3 | 0.03 | 13.5 | 0.6 | 0.03 | 0.3 | 1.4 | 1.7 | 4.0 |
| Fusion detection | ||||||||||
| DNA sequencing | + | + | + | + | + | + | NP | + | + | + |
| Breakpoint-specific PCR | + | + | + | + | + | + | NP | NP | NP | NP |
| RNA sequencing | NP | NP | + | + | Failed | + | + | + | Failed | NP |
| SYK FISH | Failed | + | + | + | Failed | + | NP | + | + | + |
| CNV analysis | − | − | − | − | − | − | NP | NP | − | NP |
| Pathologic features | ||||||||||
| Touton giant cells | No | No | No | No | No | No∗ | No | No | No | No |
| CD68 | + | + | + | + | + | + | + | + | + | + |
| PU.1 | + | + | + | + | + | + | ||||
| CD14 | + | + | + | + | + | + | + | |||
| CD163 | + | + | + | + | + | + | + | |||
| CD4 | dim+ | dim+ | dim+ | dim+ | dim+ | + | + | |||
| OCT2 | −/bl | −/bl | −/bl | −/bl | −/bl | −/bl | ||||
| S100 | − | − | − | − | − | − | − | − | − | − |
| CD1a | − | − | − | − | − | − | − | − | − | − |
| Cyclin D1 | + | + | + | + | + | + | + | |||
| SYK | + | + | + | + | + | + | ||||
| p-SYK | + | + | + | + | + | + | ||||
| p-S6 | + | + | + | + | + | + | ||||
| p-ERK | rare+ | rare+ | rare+ | rare+ | + | + | ||||
| p-AKT | − | − | − | − | − | − | ||||
| Cytokeratin AE1/3 | − | − | − | − | − | − | − | |||
| (Smooth muscle) actin | − | − | − | − | − | − | − | |||
+, positive; −, negative; ?, unknown; −/bl, weak blush to negative; Abdom, abdominal; CNV, copy number variation; dim, weakly; F, female; M, male; NP, not performed/not reported; p, phosphorylated; rare, rare cells; Scap, scapular.
Potentially rare Touton giant cell (see supplemental Figure 2).