Table 1.
Sarcomas of the musculoskeletal system. The table reports the main molecular and clinical features of selected MSKT.
| Sarcoma | Type | Pathognomonic Feature | Incidence @ | 5-Year Overall Survival |
Primary Site | Main Metastasis Site | Therapy | Refs. |
|---|---|---|---|---|---|---|---|---|
| Osteosarcoma (OS) | BS | Multiple chromosomal aberrations; frequent TP53 and RB1 mutations; DNA helicase disorders |
3–4.5 * | 60% * | Knee, humerus | Lungs | Neo-adjuvant and adjuvant chemotherapy (Methotrexate, Adriamycin, Cisplatin (MAP)); surgery or radiotherapy where surgery is not possible | [26,27] |
| Ewing sarcoma (EWS) | BS | 85–90% EWS::FLI1 translocation |
<1 | 70% # | Long and flat bones | Lungs, bone, bone marrow | Induction chemotherapy (doxorubicin, etoposide, cyclophosphamide, vincristine, and ifosfamide); surgery; radiotherapy | [28] |
| Chondrosarcoma (CHS) | BS | IDH1/2, EXT1/2 mutations | <6 | >90% (low grade); 75% (II grade); 30% (III grade) | Proximal femur, humerus, tibia, pelvis and scapula | Lungs | Surgery | [29,30,31] |
| Liposarcoma (LPS) | STS | MDM2, CDK4 amplification | 10 | 93% (grade I §); 57% (grade II §§); 21% (grade III §§) |
Most commonly in thigh, retroperitoneum, inguinal region and popliteal fossa | Retroperitoneum, distant sites and soft tissue sites §§ | Surgery; chemoradiotherapy | [32,33] |
| Rhabdo-myosarcoma (RMS) | STS | PAX3::FOXOA1 and PAX7::FOXOA1 translocations; RAS-PI3K, RTK signaling, loss of PTEN, TP53 and CDKN2A in fusion negative RMS | 4.5 ^ | >70% | Head, neck, genitourinary tract, limbs | Lungs, bone and bone marrow | Surgery, ionizing radiation, chemotherapy (vincristine, actinomycin D, cyclophosphamide (VAC); Ifosfamide) | [34] |
| Myxofibrosarcoma (MFS) | STS | Highly complex karyotypes | 1 | 75% | Lower limbs, trunk, head and neck | Lungs, bone and lymph nodes | Surgery; radiotherapy; chemotherapy (doxorubicin, ifosfamide) | [35,36] |
| Synovial Sarcoma (SS) | STS | 95% SYT::SSX1/2/4 translocation | 1–2 | 76% # | Extremities | Lungs, bone and lymph nodes | Surgery; radiotherapy; chemotherapy (anthracycline plus ifosfamide, gemcitabine, docetaxel, trabectidin, VAC) | [37] |
| Leiomyosarcoma (LMS) | STS | Highly complex karyotypes with genomic instability | 6 | 50% | Commonly in peritoneum and extremities | Lungs, peritoneum, liver, and bone | Surgery; radiotherapy; chemotherapy (doxorubicin) |
[33] |
| Undifferentiated pleomorphic sarcoma (UPS) |
STS | Highly complex karyotypes | 8–10 | 48% | Long bones, preference for proximal tibia and distal femur | Lungs | Surgery; radiotherapy; chemotherapy (anthracycline and ifosfamide) |
[38,39] |
Notes: @ cases/106 population/year; * in children and adolescents; # local disease; § well-differentiated LPS; §§ de-differentiated LPS; ^ aged under 20.