Summary of main genetic alterations identified in musculoskeletal sarcomas described in this review

Sarcoma subtypeMain genetic hallmarksGenes/locationReferences
OSMutationTP53 and RB1[7, 8]
ESTranslocation t(11;22)(q24;q12)EWSR1::FLI1[9, 10]
CSMutationIDH1 and IDH2[11, 12]
WDLPS; DDLPSAmplificationMDM2 and CDK4[13, 14]
MLPSTranslocation t(12;16)(q13;p11)FUS::DDIT3[13, 14]
SSTranslocation t(X;18)(p11.2;q11.2)SS18::SSX[15]
Alveolar RMSTranslocations: t(2;13)(q35;q14); t(1;13)(p36;q14)PAX3::FOXO1; PAX7::FOXO1[16, 17]
Embryonal RMSLOH11p15 locus[16, 17]

OS: osteosarcoma; ES: Ewing sarcoma; CS: chondrosarcoma; IDH1: isocitrate dehydrogenase 1 gene; WDLPS: well-differentiated liposarcoma; DDLPS: dedifferentiated liposarcoma; MLPS: myxoid liposarcoma; SS: synovial sarcoma; RMS: rhabdomyosarcoma; LOH: loss of heterozygosity