Table 1.
Sarcomas with specific alterations
| Sarcomas with fusion genes | |||||
| Fusion genes involving TET genes | |||||
| Gene (N-C) | Chromosomal location | Clinical Significance | Proposed function of gene product | Detection Method | |
| Ewings/PNET | EWSR1-FLI1 EWSR1-ERG EWSR1-ETV1 EWSR1-ETV4 EWSR1-FEV FUS-ERG FUS-FEV EWSR1-ZSG | t(11;22)(q24;q12) t(21;22)(q22;q12) t(7;22)(p22;q12) t(17;22)(q12;q12) t(2;22)(q33;q12) t(16;21)(p11;q22) t(2;16) inv (22) | Diagnostic EWSR1 associated with Good prognosis | Overexpression of Oncogene e.g. MYC, ID2, CCND1, IGF1 | IHC (FLI1) Karyotype FISH (EWSR1 break apart probe), RT-PCR |
| Desmoplastic Small Round Cell Tumor | EWSR1- WT1 EWSR1-ERG | t(11;22)(p13;q12) t(21;22)(q22;q12) | Diagnosis, therapeutic (PDGF inhibitors) | up-regulates oncogenic factors e.g. PDGF, IL2Rβ, BAIALP3, TALLA1,MLF1 | IHC (WT1) FISH (EWSR1 break-apart probe) Karyotype |
| Clear cell sarcoma(CCS) | EWSR1-ATF1 EWSR1-CREB1 | t(12;22)(q13;q12) t(2;22)(q33;q12) | Diagnosis | Up-regulation of ARNT2,ATM, GPP34, MITF gene | FISH (EWSR1 break apart probe), PCR |
| Angiomatoid Fibrous Histiocytoma | FUS-ATF1 EWSR1-ATF1 EWSR1-CREB1 | t(12;16)(q13;p11) t(12;22)(q13;q12) t(2;22)(q33;q12) | Diagnosis | FISH | |
| Extraskeletal myxoid chondrosarcoma | EWSR1-NR4A3 TAF2NNR4A3 TCF12-NR4A3 TFG-NR4A3 | t(9;22)(q22;q12) t(9;17)(q22;q11) t(9;15)(q22;q21) t(9;22)(q22;q15) | Diagnosis | FISH, RT-PCR (NR3A3-EWS fusion) | |
| Myxoid/ round cell liposarcoma | FUS-DDIT3 (CHOP) EWSR1-DDIT3 (CHOP) | t(12;16)(q13;p11) t(12;22)(q13;q12) | Diagnosis, Potential therapeutic | Overexpression of MDM2, CDK4, MET.PDGFα | FISH (FUS breakapart probe) |
| Low Grade Fibromyxoid Sarcoma / HSCT | FUSCREB3L2 FUSCREB3L1 | t(7;16)(q33;p11) t(11;16)(p11;p11 | Diagnosis | FISH (FUS break-apart probe), RTPCR | |
| Fusion genes involving RTK genes | |||||
| Congenital mesoblastic nephroma | ETV6-NTRK3 | t(12;15)(p13;q25) | Diagnosis | FISH, RT-PCR | |
| Congenital fibrosarcoma | ETV6-NTRK3 | t(12;15)(p13;q25) | Diagnosis | FISH, RT-PCR | |
| Inflammatory myofibroblastic tumor | TPM3-ALK TPM4-ALK CLTC-ALK RANBP2-ALK | t(1;2)(q25;q23) t(2;19)(q23;q13) t(2;17)(q23;q23) t(2;2)(p23;q13) | Diagnosis | IHC (ALK protein) FISH, RT-PCR | |
| Fusion genes involving chromatin remodeling genes | |||||
| Synovial sarcoma | SS18-SSX1 SS18-SSX2 SS18-SSX4 SS18L1-SSX1 TLE1 gene | t(X;18)(p11;q11) t(X;18)(p11;q11) t(X;18)(p11;q13) t(x;20)(p11;q13) | Diagnosis, Better prognosis of SS18-SSX2 | FISH (SYT probe), RT-PCR, IHC (TLE1 protein) | |
| Endometrial stromal sarcoma | JAZF1-SUZ12 JAZF1-PHF1 EPC1-PHF1 | t(7;17)(p15;q21) t(6;7)(p21;p15) t(6;10)(p21;p11) | Diagnosis | RT-PCR | |
| Fusion genes involving growth factors genes | |||||
| Dermatofibrosarcoma protuberans | COL1A1-PDGFB | t(17;22)(q22;q13) | Diagnosis, Therapeutic (Gleevec responsive) | Up-regulate the expression of PDGFR | FISH, RT-PCR |
| Giant Cell Fibroblastoma | COL1A1-PDGFB | t(17;22)(q22;q13) | Diagnosis | FISH, RT-PCR | |
| Other type of fusion genes | |||||
| Alveolar Rhabdomyosarcoma | PAX3-FOXO1A PAX7-FOXO1A PAX3-MLLT7 PAX3-NCOAI | t(2;13)(q35;q14) t(1;13)(q36;q14) T(2;X)(p35;q13) T(2;2)(q35;q23) | Diagnostic Better Prognosis with PAX7-FOXO1A | FISH (FOXO1A Break-apart probe), Karyotype, RT-PCR | |
| Alveolar soft part sarcoma | ASPSL-TFE3 | t(X;17)(p11;q25) | Diagnosis | IHC (TFE3), RT-PCR | |
| Aneurysmal bone cyst | CDH11-USP6 THRAP3-USP6 CNBP-USP6 OMD-USP6 COL1A1-USP6 | t(16;17) t(1;17) t(3;17) t(9;17) t(17;17) | Diagnosis | FISH, RT-PCR | |
| Tenosynovial giant cell tumor | CSF1-COL6A3 | t(1;2) | Diagnosis | ||
| Hemangiopericytoma | t(12;19) | Diagnosis | |||
| Pericytoma | ACTB-GLI1 | t(7;12) | Diagnosis | ||
| Sarcomas with specific oncogenic mutation | |||||
| Gastrointestinal Stromal Tumors | KIT or PGDFRA | Occult 4q12 | Diagnosis, C-Kit Gleevac responsive | Activation Tyrosine kinase Receptor | IHC (C-Kit), PCR |
| Rhabdoid tumor | SMARCB1 | del 22q11.22 | Diagnosis | LOH | IHC (loss of INI1) |
| Atypical lipomatous tumor/ Welldifferentiated liposarcoma | giant marker and in Micatio3 | Cyclin dependent kinaser | FISH (MDM2, CDK4 amplification) | ||
| Fibromatosis | APC inactivation | Trisomies 8 and 20 Deletion of 5q | Diagnosis | IHC(βcatenin) | |
| Sarcoma with variable complex genetic alteration (discussed in text) | |||||