Table 1.
Head and neck GLI1-positive mesenchymal tumors: clinicopathologic, immunophenotypic and molecular characteristics.
| Molecular profile | Clinical characteristics | Pathologic features and immunoprofile | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GLI1 alteration (12q13.3) | CDK4 (12q14.1) | MDM2 (12q15) | Fusion Partner | Age | Sex | Primary site | LR/ DM | Status at last FU | FU period (months) | MI | Necrosis | S100 | SOX10 | CD56 | SMA | AE1/3 | EMA | STAT6 | CDK4 | MDM2 | |
| 1 | Amp. | Amp. | Amp. | 39 | M | Neck | Yes | AWD | 36 | 7 | Yes | + | - | +++ | +++ | ++ | - | - | + | + | |
| 2 | Amp. | Amp. | Amp. | 46 | F | Tongue | No | NED | 3 | 0 | No | + | - | +++ | ++ | - | - | - | +++ | + | |
| 3 | Amp. | Amp. | Amp. | 65 | M | Tongue | NA | NA | NA | 5 | No | - | - | ND | - | - | - | +++ | +++ | +++ | |
| 4 | Amp. | Amp. | Amp. | 60 | M | Tongue | NA | NA | NA | 11 | No | + | ND | ND | - | ND | ND | + | ND | ND | |
| 5 | Fusion | PTCH1 | 32 | F | Subm. | Yes | AWD | 104 | 6 | Yes | +++ | ND | ND | - | - | + | ND | ND | ND | ||
| 6 | Fusion | PTCH1 | 38 | M | Tongue | No | NED | 2 | 1 | No | ++ | - | +++ | - | - | ND | ND | ND | ND | ||
| 7 | Fusion | ACTB | 37 | M | Neck/subm. | No | NED | 30 | 0 | No | - | ND | +++ | + | - | ND | - | - | + | ||
| 8 | Fusion | ACTB | 1 | M | Tongue | No | NED | 2 | 4 | No | ND | ND | ND | - | ND | ND | ND | ND | ND | ||
| 9 | Fusion | ACTB | 28 | M | Tongue | NA | NA | NA | 0 | No | ++ | - | ND | + | - | - | ND | ND | ND | ||
| 10 | Fusion | ACTB | 14 | M | Tongue | NA | NA | NA | 0 | No | - | ND | ND | ND | - | ND | ND | ND | ND | ||
| 11 | Fusion | MALAT1 | 56 | F | Tongue | NA | NA | NA | 8 | No | - | - | ND | - | + | ND | ND | ND | ND | ||
FU: follow up; MI: mitotic index (per 10 high power fields); SMA: smooth muscle actin; AE1/3: cytokeratin AE1/AE3; EMA: epithelial membrane antigen; Amp.: Amplification; M: male; F: female; Subm.: submandibular gland; LR: local recurrence; DM: distant metastasis; AWD: alive with disease; NED: no evidence of disease; NA: not available; ND: not done; +++: diffuse and strong immunopositivity; ++: Patchy or multifocal immunopositivity; +: focal or weak immunopositivity; -: negative.