Table 2.
Shows molecular alterations most frequently reported in ESS.
| Type | Genes Involved | Most Frequent Reported Fusions/Gene Rearrangements/Alterations |
Translocations | References |
|---|---|---|---|---|
| LG-ESS | JAZF1 | MEAF6-SUZ12 | t(1;17)(p34;q11) | [73] |
| SUZ12 | JAZF1-SUZ12 | t(7;17)(p15;q11) | [31,78,79] | |
| PHF1 | JAZF1-PHF1 | t(6;7)(p21;p15) | [80] | |
| BCORL1 | EPC1-PHF1 | t(10;6)(p11;p21) | [80] | |
| EPC1 | MEAF6-PHF1 | t(1;6)(p34;p21) | [81] | |
| EPC2 | MBTD1-CXorf67 (MBTD1-EZHIP) | t(X;17)(p11.2;q21.33) | [82] | |
| MEAF6 | BRD8-PHF1 | t(5;6)(q31;p21) | [83] | |
| MBTD1 | JAZF1-BCORL1 | t(7;X)(p15;q26.1) | [84] | |
| EZHIP | EPC2-PHF1 | t(2;6)(q23;p21) | [85] | |
| BRD8 | EPC1-SUZ12 | t(10;17)(p11;q11) | [86] | |
| BCOR | EPC1-BCOR | t(10;X)(p11;p11) | [86] | |
| MAGED2 | MAGED2-PLAG1 | t(X;8)(p11.21;q12.1) | [87] | |
| PLAG1 | MBTD1-PHF1 | t(X;6)(p11.2;p21) | [88] | |
| YWHAE | YWHAE/NUTM2 | t(10;17)(q22;p13) | [89,90] | |
| NUTM2 | MEAF6-SUZ12 | t(5;6)(q31;p21) | [83] | |
| HG-ESS | YWHAE | YWHAE/NUTM2 | t(10;17)(q22;p13) | [5,7,57] |
| NUTM2A/B/E | EPC1-BCOR | t(10;X)(p11;p11) | [63,86] | |
| EPC1 | EPC1-SUZ12 | t(10;17)(p11;q11) | [63,86] | |
| SUZ12 | BRD8-PHF1 | t(5;6)(q31;p21 | [63,86] | |
| BCOR | BCOR alteration | none | [89] | |
| BRD8 | ||||
| PHF1 | ||||
| ZC3H7B-BCOR HG-ESS | ZC3H7B | ZC3H7B-BCOR | t(22;X)(q13;p11) | [77,93,105] |
| BCOR | BCOR-ZC3H7B | t(X;22)(p11;q13) | ||
| BCOR ITD HG-ESS | BCOR | BCOR ITD | none | [93] |
| NTRK-uterine sarcomas HG-ESS | TPR | TPR-NTRK1 | 1q31.1-1q23.1 | [110] |
| NTRK1 | LMNA-NTRK1 | 1q22-1q23.1 | [110] | |
| LMNA | TPM3-NTRK1 | 1q21.3-1q23.1 | [110,111] | |
| TPM3 | RBPMS-NTRK3 | t(8;15)(p12;q25.3) | [110] | |
| RBPMS | EML4-NTRK3 | t(2;15)(p21;q25.3) | [111] | |
| NTRK3 | COL1A1-PDGFB | t(17;22)(q21.33;q13.1) | [111,112] | |
| EML4 | STRN-NTRK3 | t(2;15)(p22.2;q25.3) | [114] | |
| COL1A1 | TPR-NTRK1 | 1q31.1-1q23.1 | [110] | |
| PDGFB | LMNA-NTRK1 | 1q22-1q23.1 | [110] | |
| STRN | TPM3-NTRK1 | 1q21.3-1q23.1 | [110,111] | |
| UUS | YWHAE | YWHAE gene rearrangement | unknown fusion partner | [63] |
| CREBBP | CREBBP-BCOR | t(16; X)(p13;p11) | [89] | |
| BCOR | HMGA2-RAD51B | t(12;14)(q14.3;q24.1) | [109] | |
| HMGA2 | GREB1-NCOA2 | t(2;8)(p25.1;q13.3) | [120] | |
| RAD51B | ||||
| GREB1 | ||||
| NCOA2 |