Table 1.
NGS fusion profiling: panel comparison.
| Nr | Diagnosis | Pre-detected genetic abnormality | Primary detection method | Histotype-specific fusion detected by the indicated NGS approach | Other passing filters fusions (assay detecting the additional fusion) | ||
|---|---|---|---|---|---|---|---|
| AMP-FPS | TS-Fusion | TS-PanCancer | |||||
| 1 | Dermatofibrosarcoma Protuberans | PDGFB | FISH | COL1A1-PDGFBIL | COL1A1-PDGFB | COL1A1-PDGFB | NFD |
| 2 | Ewing Sarcoma | EWSR1 | FISH | EWSR1-FLI1IL | EWSR1-FLI1 | EWSR1-FLI1 | NFD |
| 3 | Infantile Fibrosarcoma | ETV6 | FISH | ETV6-NTRK3IL | ETV6-NTRK3 | ETV6-NTRK3 | NFD |
| 4 | Synovial Sarcoma | SS18-SSX1 | RT-qPCR | SS18-SSX1IL | SS18-SSX1 | SS18-SSX1 | SS18-SSX4 (AMP-FPSIL) |
| 5 | Synovial Sarcoma | SS18 | FISH | SS18-SSX2IL | SS18-SSX2 | SS18-SSX2 | SS18-SSX4 (AMP-FPSIL) |
| 6 | Myoepithelioma (soft tissue) | EWSR1 | FISH | EWSR1-ATF1IL | EWSR1-ATF1 | NFD | ATF1-EWSR1 (TS-Fusion,TS-PanCancer) |
| 7 | Extraskeletal Myxoid Chondrosarcoma | EWSR1-NR4A3 | RT-qPCR | EWSR1-NR4A3IL | NFD | NFD | NFD |
| 8 | Clear Cell sarcoma | EWSR1 | FISH | EWSR1-ATF1T, IL | NFD | nd | NFD |
| 9 | Ewing Sarcoma | EWSR1-FLI1 | RT-qPCR | EWSR1-FLI1T, IL | EWSR1-FLI1 | nd | NFD |
| 10 | Ewing Sarcoma | EWSR1-FLI1 | RT-qPCR | EWSR1-FLI1T, IL | EWSR1-FLI1 | nd | NFD |
| 11 | Ewing Sarcoma | EWSR1-ERG | RT-qPCR | EWSR1-ERGT, IL | EWSR1-ERG | nd | EWSR1-ERG-EWSR1 (AMP-FPSIL) |
| 12 | Extraskeletal Myxoid Chondrosarcoma | EWSR1-NR4A3 | RT-qPCR | EWSR1-NR4A3T | EWSR1-NR4A3 | nd | NFD |
| 13 | Myxoid Liposarcoma | FUS-DDIT3 | RT-qPCR | FUS-DDIT3IL | FUS-DDIT3 | nd | NFD |
| 14 | Myxoid Liposarcoma | FUS-DDIT3 | RT-qPCR | FUS-DDIT3T, IL | FUS-DDIT3 | nd | DDIT3-FUS (TS-Fusion) |
| 15 | Myxoid Liposarcoma | FUS-DDIT3 | RT-qPCR | FUS-DDIT3T, IL | FUS-DDIT3 | nd | FUS-DDIT3-DLG2 (AMP-FPSIL) |
| 16 | Synovial Sarcoma | SS18-SSX1 | RT-qPCR | SS18-SSX1IL | SS18-SSX1 | nd | SS18-SSX4-SS18; SS18-SSX4 (AMP-FPSIL) |
| 17 | Synovial Sarcoma | SS18 | FISH | SS18-SSX1IL | SS18-SSX1 | nd | NFD |
| 18 | Synovial Sarcoma | SS18-SSX1 | RT-qPCR | SS18-SSX1IL | SS18-SSX1 | nd | SS18-SSX4 (AMP-FPSIL) |
| 19 | Synovial Sarcoma | SS18-SSX1 | RT-qPCR | SS18-SSX1T, IL | SS18-SSX1 | nd | SS18-SSX1/4-SS18; SS18-SSX4 (AMP-FPSIL) |
| 20 | Myxoid Liposarcoma | DDIT3 | FISH | FUS-DDIT3IL | nd | FUS-DDIT3 | DDIT3-FUS (TS-PanCancer) |
| 21 | Myxoid Liposarcoma | DDIT3 | FISH | nd | FUS-DDIT3 | NFD | NFD |
| 22 | Synovial Sarcoma | SS18 | FISH | nd | SS18-SSX1 | nd | NFD |
| 23 | Synovial Sarcoma | SS18 | FISH | nd | SS18-SSX1 | nd | NFD |
| 24 | Myxoid Fibrosarcoma | FUS | FISH | nd | FUS-CREB3L2 | nd | NFD |
| 25 | Myxoid Liposarcoma | FUS-DDIT3 | RT-qPCR | nd | FUS-DDIT3 | nd | DDIT3-FUS (TS-Fusion) |
| 26 | Myxoid Liposarcoma | DDIT3 | FISH | nd | NFD | nd | NFD |
| 27 | Undifferentiated Round Cell, Ewing-Like Sarcoma | CIC | FISH | nd | NFD | nd | NFD |
NFD, no histotype-specific fusion detected; nd, not done; FISH, fluorescent in situ hybridization; RT-qPCR, reverse transcriptase- quantitative PCR; Sequencing platform used: T, Thermo platform; IL, Illumina platform.