Table 3:
Clinicopathologic features of tumors with ACTB-GLI1 gene fusions, including previously and currently reported cases
| Case # (year) | Author | Sex | Age | Tumor Site | Size (cm) | Clinical Presentation | Histology and Assessment of Biologic Potential | IHC features | Treatment | Follow-up (months) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1–5 (2004) | Dahlen et al1 | M | 61 | Calf | 2.0 | N/A | Spindle-to-ovoid; homogenous, arranged around thin-walled blood vessels; infiltrative/lobular growth; 3/5 focal myxoid stroma; 2/5 subendothelial protrusion into vascular lumina. Benign. | +SMA, EMA (f) −Desmin, S100, CK |
Resection | Died of unrelated causes, NED (60)* |
| Dahlen et al1 | F | 27 | Tongue | 0.8 | N/A | +SMA −Desmin, S100, CK, EMA |
Neoadjuvant chemo + resection | NED (60) | ||
| Dahlen et al1 | M | 11 | Tongue | 5.0 | N/A | +SMA (f) −Desmin, S100, CK, EMA |
Neoadjuvant chemo + resection | NED (22) | ||
| Dahlen et al1 | F | 65 | Stomach | 5.5 | N/A | +SMA (f) −Desmin, S100, CK, EMA |
Resection | NED (24) | ||
| Dahlen et al1 (previously reported)10 | F | 12 | Tongue | 2.4 | Growing tongue mass | +SMA (f) −Desmin, S100, CK |
Resection | NED (120) | ||
| 6 (2012) | Bridge et al2 | M | 67 | Bone (talus) | 2.7 | Pain in right foot and ankle | Spindle-to-ovoid; cellular, prominent lesional vasculature; focal myxoid stroma; invasive growth. Low-grade malignant on biopsy, benign on excision. | +SMA (f), EMA (f) −Desmin, S100, CK |
Amputation | NED (204)* |
| 7 (2016) | Castro et al3 | F | 9 | Stomach | 6.9 | Abdominal pain and vomiting | Ovoid-to-spindle; plexiform vasculature, cystic, circumscribed with lymphoid capsule, ischemic necrosis. Biologic potential not specified. | +EMA (f) −Desmsin, SMA, CK, S100 |
Partial gastrectomy | NED (6) |
| 8–11 (2018) | Antonescu et al4 | M | 20 | Thigh | N/A | N/A | Round to epithelioid; arranged in nests, cords, and reticular patterns; mostly solid, occasional myxoid stroma. Biologic potential malignant based on clinical. | +S100 −SMA, CK, EMA |
N/A | N/A |
| Antonescu et al4 | F | 30 | Foot | 1.5 | N/A | +S100 −SMA, CK, EMA |
N/A | AWD, LN met (21) | ||
| Antonescu et al4 | F | 79 | Retrope-ritoneum | N/A | N/A | −S100, SMA, CK, EMA | N/A | AWD, LN met (interval N/A) | ||
| Antonescu et al4 | F | 38 | Chest wall (muscle) | N/A | N/A | +CK (f) −S100, SMA, EMA |
N/A | N/A | ||
| 12 (2018) | Koh et al9 | F | 11 | Ovary | 15.0 | Abdominal pain and distension | “Round to spindle;” alternating hypo- and hypercellular, cystic, pushing border; necrosis; “rare” mitoses; +subendothelial tumor proliferation. Biologic potential not specified. | +S100 −Desmin, SMA, CK, EMA |
Left salpingooph-orectomy | NED (24)* |
| 13–15 | Current cases | F | 57 | Bone (tibia) | 9.8 | Painless mass | Round-to-ovoid; richly vascularized stroma; myxoid stroma in 1 case. Low-to-intermediate grade malignant. | +SMA (f), EMA (f) −S100, CK, desmin |
Neoadjuvant chemo+ resection | AWD, bone met (27) |
| M | 62 | Bone (scapula) | 7.5 | Palpable mass | +SMA (+/f) −S100, EMA, CK, desmin |
Resection + adjuvant radiotherapy | AWD, lung met (84) and soft tissue/bone met (180) | |||
| F | 41 | Ovary | 7.0 | Incidental ovarian cyst | Ovoid; alternating hypo- and hypercellular, solid/cystic;necrosis. Biologic potential not clear. | +SMA (f), S100 (f), EMA, CK-Desmin | Total abdominal hysterectomy with bilateral salpingooph-orectomy | NED (14) |
Abbreviations: IHC, immunohistochemistry; N/A: not available; S100, S100 protein; chemo, chemotherapy; NED, no evidence of disease; AWD, alive with disease; met, metastasis; LN, lymph node.
*
per personal communication with prior author(s).