Table 1.
Characteristic of fusion genes in gynecologic oncology.
| Fusion genes | Frequency | Cancer type | Chromosome | Junction | Molecular mechanism | Role in cancer | References |
|---|---|---|---|---|---|---|---|
| PCMTD1-CCNL2 | 22% (4/18) | Ovarian cancer | 8, 1 | 3, 6 | – | – | [52] |
| ANXA5-CCNA2 | 5.6% (1/18) | Ovarian cancer | 4, 4 | 3, 3 | – | – | [52] |
| PDE4D-CCNB1 | 5.6% (1/18) | Ovarian cancer | 5, 5 | 1, 2 | – | – | [52] |
| SLC25A40-ABCB1 | 15.7% (20/108) | Ovarian cancer | 7, 7 | –, 2 | Upregulate ABCB1 expression | Associated with drug resistance | [55] |
| TMEM123-MMP27 | – | Ovarian cancer | 11, 11 | 2, 7 | Increase the expression of the 3′ end gene | – | [72] |
| ZBTB46-WFDC13 | – | Ovarian cancer | 20, 20 | –, 2 | Increase the expression of the 3′ end gene | – | [72] |
| PLXNB1-PRKAR2A | – | Ovarian cancer | 3, 3 | 9, 7 | Increase the expression of the 3′ end gene | – | [72] |
| MAN2A1-FER | 1.7% (1/60) | Ovarian cancer | 5, 5 | 13, 6 | Significantly improve FER tyrosine kinase activity | Oncogenic | [42] |
| CDKN2D-WDFY2 | 20% (12/60) | Ovarian cancer | 19, 13 | 1, 13 | Express a truncated WDFY2 protein | – | [60] |
| BCAM-AKT2 | 7% (4/60) | Ovarian cancer | 19, 19 | 13, 5 | Guide the fused AKT2 to the membrane where it is activated by phosphorylation | Oncogenic | [66] |
| FHL2-GLI2 | 65% (17/26) | Sclerosing stromal tumors of the ovary | 2, 2 | 5, 8 | Activate the Sonic hedgehog (Shh) signaling pathway | Oncogenic | [67] |
| CPQ-PRKDC | 2.5% (3/122) | Endometrial cancer | 8, 8 | 2, 80 | – | – | [75] |
| EPC1-SUZ12 | – | Endometrial stromal sarcoma | 10,17 | 10, 2 | – | – | [85] |
| EPC1-BCOR | – | Endometrial stromal sarcoma | 10, X | 7, 11 | – | – | [85] |
| EPC1-PHF1 | – | Endometrial stromal sarcoma | 10, 6 | 10, 2 | – | – | [86] |
| MEAF6-PHF1 | – | Endometrial stromal sarcoma | 1, 6 | 5, 2 | – | – | [92] |
| BRD8-PHF1 | – | Endometrial stromal sarcoma | 5, 6 | 16, 2 | – | – | [93] |
| EPC2-PHF1 | – | Endometrial stromal sarcoma | 2, 6 | 13, 2 | – | – | [94] |
| JAZF1-PHF1 | – | Endometrial stromal sarcoma | 7, 6 | 2, 1 | – | – | [86] |
| YWHAE-FAM22A | 26–58% | Endometrial stromal sarcoma | 17, 10 | 5, 2 | Activates the expression of a series of downstream genes, such as CCND1 and CEBPA | Oncogenic | [97, 98] |
| JAZF1-SUZ12 | 15–50% | Endometrial stromal sarcoma | 7, 17 | 3, 2 | Changes the structure of the PRC2 complex and inhibits its H3K27 methylation activity | Oncogenic | [101, 106] |
| MBTD1-CXorf67 | 7% | endometrial stromal sarcoma | 17, X | 16, 1 | Increased the expression of CXorf67 | – | [107] |
| FGFR3-TACC3 | 1.9% (2/103) | Cervical cancer | 4, 4 | 17, 4&6 | Activates the MAPK pathway by increasing its FGFR3 signal | Oncogenic | [80, 81] |
| IGFBP5-ALK | 27% (3/11) | Uterine inflammatory myofibroblastoma | 2, 2 | 1, 19 | – | – | [110] |
| THBS1-ALK | 27% (3/11) | Uterine inflammatory myofibroblastoma | 15, 2 | 4, 19 | – | – | |
| FN1-ALK | 18% (2/11) | Uterine inflammatory myofibroblastoma | 2, 2 | – | – | – | |
| TIMP3-ALK | 9% (1/11) | Uterine inflammatory myofibroblastoma | 22, 2 | 1,19&20 | – | – | |
| GREB1-NCOA2 | – | UTROSCT | 2, 8 | 3, 14 | – | Tumors with GREB1 rearrangements are more aggressive | [113] |
| GREB1-NR4A3 | – | UTROSCT | 2, 9 | 7, 2 | – | ||
| GREB1-SS18 | – | UTROSCT | 2, 18 | 7, 6 | – | ||
| GREB1-NCOA1 | – | UTROSCT | 2, 2 | 7, 13 | – |
The table shows the frequency, cancer type, chromosome location, the site of the junction, molecular mechanism, and role in cancer of all the confirmed fusion genes.