Table 1.
Summary of genetic/molecular changes in musculoskeletal neoplasms
| Type of tumor | Chromosomal abnormality | Gene involved or fusion gene | Prevalence | Molecular test | Prognosis |
|---|---|---|---|---|---|
| Benign musculoskeletal tumors | |||||
| Fibrous lesions [21] | 12p13 aberrations (three cases) and trisomy 2 (three cases) | NA | NA | NA | Benign |
| Aneurysmal bone cyst [91] | 16q22 and 17p–13 | CDH11-USP6 | NA | FISH or RT-PCR | Benign |
| Osteochondroma [16] | 8q22–24.1 | EXT1 | NA | NA | Benign |
| Lipoma [14] | Majority have normal karyotype | NA | NA | NA | Benign |
| Lipoblastoma [31] | Rearrangement of 8q12, polysomy 8 | PLAG1 | 70% | FISH | Benign |
| Desmoid tumor [80] | +8, +20, Deletion (5)(q21-22) | NA | NA | FISH | Benign |
| Benign and intermediate musculoskeletal tumors | |||||
| Giant cell tumor [91] | Telomere translocations–19q, 11p, 15p, 18p, 20q, and 21p | NA | NA | FISH | Benign, rarely malignant |
| Tenosynovial giant cell tumor [74] | t(1;2)(p11;q35-37) | NA | 40% | FISH or RT-PCR | Benign, rarely malignant |
| Extraskeletal myxoid chondrosarcomas [94] | t(9;22)(q22;q12) | EWS-TEC(CHN) | 75% | FISH | 90% |
| t(9;17)(q22;q11) | RBP56-TEC | NA | RT-PCR | 5-year survival | |
| t(9;15)(q22;q21) | TAF2N-TEC | 25% | |||
| TGF-TEC | Rare | ||||
| Extraskeletal mesenchymal chondrosarcoma [72] | t(9;17)(q22;q11) | RBP56-TEC | NA | FISH | 90% |
| RT-PCR | 5-year survival | ||||
| Chondromyxoid fibroma [88] | t(9;15)(q22;q21) | NA | NA | RT-PCR | Benign with 25% recurrence rate |
| Giant cell fibroblastoma (juvenile form of DFSP) [92] | t(17;22)(q22;q13) | COL1A1-PDGFB | FISH or RT-PCR | Benign | |
| Malignant musculoskeletal tumors | |||||
| Osteosarcoma [83] | LOH in 3q, 13q, 17p and 18q and variable chromosomal changes | NA | NA | FISH | 60%–85% |
| RT-PCR | 5-year survival | ||||
| Parosteal osteosarcoma [83] | Supernumerary ring chromosomes | NA | NA | FISH | |
| Ewing’s sarcoma/PNET [12] | t(11;22)(q24;q12) | EWS-FLI-1 | 85%–95% | FISH or RT-PCR | 60% |
| t(21;22)(q22;q12) | EWS-ERG | Others—20% | |||
| t(7;22)(p22;q12) | EWS-ETV1 | 5-year survival | |||
| EWS-E1AF | |||||
| EWS-FEV | |||||
| EWS-ZSG | |||||
| DSRCT [57] | t(11;22)(p13;q12) | EWS-WT1 | RT-PCR | 20% | |
| 3-year survival | |||||
| Chordoma [17] | Sporadic | NA | NA | NA | 20–30% |
| 5yr survival – site dependent | |||||
| Adamantinoma [40] | Numerical changes in 5 cases | NA | NA | NA | 85%–87% |
| 5-year survival | |||||
| Myxoid/round cell liposarcoma [14] | t(12;16)(q13;p11) | EWS-CHOP | Greater than 95% | FISH | 17 months |
| t(12;22)(q13;q12) | TLS-CHOP (Type I) | rare | RT-PCR or FISH | 75 months | |
| TLS-CHOP (Type II) | RT-PCR | 5 yr survival | |||
| Embryonal rhabdomysarcoma [33] | Gains of 2, 7, 8, 12, 13; losses of 1, 6, 9, 14, and 17 | IGF2, GOK, PTCH, TP53 | NA | NA | 40% |
| 5-year survival | |||||
| Alveolar rhabdomysarcoma [29] | t(2;13)(q35;q14) | PAX3-FKHR | 75% | FISH or RT-PCR | 8% |
| t(1;13)(p36;q14) | PAX7-FKHR | 10% | 75% | ||
| 4-year survival | |||||
| Clear cell sarcoma [87] | t(12;22)(q13;q12) | EWS-ATF1 | 90% | FISH or RT-PCR | 33% |
| 10-year survival | |||||
| Synovial sarcoma [49, 96] | t(X;18)(p11;q11) | SYT-SSX1 (53%) | 65% | FISH or RT-PCR | 53% |
| SYT-SSX2 (73%) | 35% | 73% | |||
| SYT-SSX4 | rare | 5-year survival | |||
| Congenital/infantile fibrosarcoma [54] | t(12;15)(p13;q25) | ETV6-NTRK3 | 80% | FISH or RT-PCR | 84% |
| 5-year survival | |||||
| Inflammatory myofibroblastic tumor [61] | t(1;2)(q25;p23) | TPM3-ALK | NA | FISH or RT-PCR | Inconclusive |
| t(2;19)(p23;p13) | TPM4-ALK | ||||
| t(2;17)(p23;q23) | CLTC-ALK | ||||
| t(2;2)(p23;q13) | RANBP2-ALK | ||||
| Dermatofibrosarcoma protuberans [51, 92] | t(17;22)(q22;q13) | COL1A1-PDGFB | Greater than 99% | FISH or RT-PCR | 86% |
| 5-year disease-free survival | |||||
| Alveolar soft part sarcoma [58] | t(X;17)(p11;q25) | NA | NA | RT-PCR | 87% |
| 5-year survival | |||||
| Giant cell fibroblastoma (juvenile form of DFSP) [92] | t(17;22)(q22;q13) | COL1A1-PDGFB | FISH or RT-PCR | ||
DFSP = dermatofibrosarcoma protuberans; NA = not applicable/not known; FISH = fluorescence in situ hybridization; RT-PCR = reverse transcription-polymerase chain reaction.