TABLE 2.
Select Sarcomas With Diagnostically Relevant Distinct Cytogenetic and Molecular Alterations
| Sarcoma Type | Cytogenetic Alteration | Molecular Alteration |
|---|---|---|
| Alveolar rhabdomyosarcoma | t(2;13)(q35;q14) | PAX3-FOXO1 fusion |
| t(1;13)(p36;q14), double minutes | PAX7-FOXO1 fusion | |
| t(2;2)(q35;p23) | PAX3-NCOA1 fusion | |
| t(X;2)(q35;q13) | PAX3-AFX fusion | |
| Alveolar soft part sarcoma | t(X;17)(p11.2;q25) | TFE3-ASPSCR1 fusion |
| BCOR-rearranged sarcoma | Inv(X)(p11.4p11.22) | BCOR-CCNB3 fusion |
| t(X;4)(p11;q31) | BCOR-MAML3 fusion | |
| t(X;22)(p11;q13) | ZC3H7B-BCOR fusion | |
| CIC-rearranged sarcoma | t(4;19)(q35;q13) or t(10; 19)(q26;q13) | CIC-DUX4 fusion |
| t(X;19)(q13;q13.3) | CIC-FOXO4 fusion | |
| Clear cell sarcoma | t(12;22)(q13;q12) | EWSR1-ATF1 fusion |
| t(2;22)(q32.3;q12) | CREB1-EWSR1 fusion | |
| Dedifferentiated liposarcoma | Ring and giant marker chromosomes | Amplification of 12q13–15: MDM2, CDK4 (HMGA2) |
| Desmoplastic small round cell tumor | t(11;22)(p13;q12) | EWSR1-WT1 fusion |
| DFSP | Ring form of chromosomes 17 and 22 | COL1A1-PDGFB fusion |
| Endometrial stromal sarcoma, low grade | t(7;17)(p15;q21) | JAZF1-SUZ12 fusion |
| t(6;7)(p21;7p15) | PHF1-JAZF1 fusion | |
| t(6;10)(p21;p11) | EPC1-PHF1 fusion | |
| t(1;6)(p34;p21) | MEAF6-PHF1 fusion | |
| t(X;17)(p11;q21) | MBTD1-CXorf67 fusion | |
| Endometrial stromal sarcoma, high grade | t(10;17)(q22;p13) | YWHAE-NUT2 fusion |
| t(X;22)(p11;q13) | ZC3H7B-BCOR fusion | |
| Epithelioid hemangioendothelioma | t(1;3)(p36;q25) | WWTR1-CAMTA1 fusion |
| t(X;11)(p11;q22) | YAP1-TFE3 fusion | |
| Epithelioid sarcoma | Deletion 22q | SMARCB1 inactivation |
| t(8;22)(q22;q11) | ||
| t(10;22) | ||
| Ewing sarcoma | t(11;22)(q24;q12) | EWSR1-FLI1 fusion |
| t(21;22)(q12;q12) | EWSR1-ERG fusion | |
| Others | Others | |
| EWSR1/FUS-NFATC2 fusion sarcoma | t(20;22)(q13.2;q12.2) | EWSR1-NFATC2 fusion |
| t(16;20)(p11;q13.2) | FUS-NFATC2 fusion | |
| Extraskeletal myxoid chondrosarcoma | t(9;22)(q22;q12) | EWSR1-NR4A3 fusion |
| t(9;17)(q22;q11) | TAF2N-NR4A3 fusion | |
| t(9;15)(q22;q21) | TCF12-NR4A3 fusion | |
| t(3;9)(q11;q22) | TFG-NR4A3 fusion | |
| t(9;17)(q22;q11) | RBP56-NR4A3 fusion | |
| GIST | Deletion 14q, 22q, 1p, 15q | KIT or PDGFRA mutation (85% of cases); (NF1, SDH, BRAF mutation, SDHC hypermethylation, other) |
| Infantile fibrosarcoma | t(12;15)(p13;q25) | ETV6-NTRK3 fusion |
| t(2;15)(p21;q25) | EML4-NTRK3 fusions | |
| Inflammatory myofibroblastic tumor | t(1;2)(q22;p23) | TPM3-ALK fusion |
| t(2;19)(p23;p13) | TPM4-ALK fusion | |
| t(2;17)(p23;q23) | CLTC-ALK fusion | |
| t(2;2)(p23;q13) | RANBP2-ALK fusion | |
| t(2;2)(p23;q35) | ATIC-ALK fusion | |
| t(2;11)(p23;p15) | CARS-ALK fusion | |
| t(2;4)(p23;q21) | SEC31L1-ALK fusion | |
| t(2;12)(p23;p12) | PPFIBP1-ALK fusion | |
| t(3;6)(q12;q22) | TFG-ROS1 fusion | |
| t(6;17)(q22;p13)? | YWHAE-ROS1 fusion | |
| RRBP1-ALK fusion | ||
| Low-grade fibromyxoid sarcoma | t(7;16)(q33;p11) | FUS-CREB3L2 fusion |
| t(11;16)(p11;p11) | FUS-CREB3L1 fusion | |
| Mesenchymal chondrosarcoma | t(8;8)(q13;q21) | HEY1-NCOA2 fusion |
| MPNST | Complex changes | SUZ12 or EED mutation (80% of cases), NF1 inactivation |
| Myoepithelial tumor/carcinoma of soft tissue | t(6;22)(p21;q12) | EWSR1-POU5F1 fusion |
| t(19;22)(q13;q12) | EWSR1-ZNF444 fusion | |
| t(1;22)(q23;q12) | EWSR1-PBX1 fusion | |
| Myxoid liposarcoma | t(12;16)(q13;p11) | FUS-DDIT3 fusion |
| t(12;122)(q13;q12) | EWSR1-DDIT3 fusion | |
| Postradiation angiosarcoma | Gain 8q24 | MYC amplification |
| Sclerosing epithelioid fibrosarcoma | t(7;16)(q33;p11) | FUS-CREB3L2 fusion |
| Solitary fibrous tumor | Inv(12)(q13q13) | NAB2-STAT6 fusion |
| Synovial sarcoma | t(X;18)(p11;q11) | SS18-SSX1/SSX2 fusion |
Abbreviations: DFSP, dermatofibrosarcoma protuberans; GIST, gastrointestinal stromal tumor; MPNST, malignant peripheral nerve sheath tumor.