Table 2.
Immunohistochemical (IHC) and Molecular Findings
Case | IHC (+) | IHC (−) | TRAF7 (NM_032271) mutation | TRAF7 mutation variant allele frequency | Copy number alterations | Sarcoma methylation classifier | Calibration score |
---|---|---|---|---|---|---|---|
1 | SMA | Desmin, S100, melan-A, beta-catenin, MUC4, CD34, keratins, STAT6, beta catenin | c.1192C>T (p.P398S), c.1730A>G (p.Y577S) | 6.1%, 8.0% | CDKN2A/B loss | Undifferentiated sarcoma (USARC) | 0.79771 |
2 | CD34, SMA (focal), GLUT1 | SOX10, S100, EMA, pan-NTRK, ALK-1, MUC4, STAT6, desmin, beta-catenin and ER. | c.1606G>A (p.G536S) | 21.5% | 1p, 12q12–13, 16q arm level loss | Undifferentiated sarcoma (USARC) | 0.98635 |
3 | WT1, CD34, PR, scattered MDM2 | CK, histiocytic CD1a CD163 CD68, calretinin, melanocytic markers, PAX8, SMA, desmin, ALK D5F3, SMARCA4 retained, SMARCB1 retained, CDK4 | c.1896C>G (p.N632K) | 14.2% | 12q arm level gain, 20q13 gain, 16q12 gain | Undifferentiated sarcoma (USARC) | 0.33081 |