Table 1.
DICER1 hotspot mutations identified in ovarian and testicular sex cord-stromal tumors and female genital tract tumors.
| Tumor type | n | DICER1 hotspot mutant (n) | p.E1705K (c.5113G>A) (n) | p.D1709N (c.5125G>A) (n) | p.E1813Q (c.5437G>C) (n) | p.G1809R (c.5658G>A) (n) |
|---|---|---|---|---|---|---|
| Sertoli-Leydig cell tumor (all) | 32 | 20 (63%) | 16 | 1 | 2 | 1 |
| Well-differentiated Sertoli-Leydig cell tumor | 2 | 0 (0%) | ||||
| Intermediately-differentiated Sertoli-Leydig cell tumor1 | 20 | 14 (70%) | 13 | 1 | ||
| Sertoli-Leydig cell tumor with gastrointestinal-type heterologous | 4 | 3 (75%) | 3 | |||
| Sertoli-Leydig cell tumor with retiform features | 6 | 3 (50%) | 2 | 1 | ||
| Poorly-differentiated Sertoli-Leydig cell tumor2 | 10 | 6 (60%) | 3 | 1 | 2 | |
| Sertoli-Leydig cell tumor with rhabdomyosarcomatous differentiation | 4 | 3 (75%) | 2 | 1 | ||
| Gynandroblastoma | 5 | 2 (40%) | 2 | |||
| Sertoli cell tumor | 8 | 5 (63%) | 5 | |||
| Sex cord tumor with annular tubules | 1 | 0 (0%) | ||||
| Sex cord stromal tumor not otherwise specified | 1 | 0 (0%) | ||||
| Embryonal rhabdomyosarcoma (pediatric) | 2 | 0 (0%) | ||||
| Primary uterine rhabdomyosarcoma (adult) | 4 | 1 (25%) | 1 | |||
| Carcinosarcoma with rhabdomyosarcomatous differentiation (adult) | 4 | 1 (25%) | 1 | |||
| Testicular sex cord stromal tumor | 15 | 0 (0%) |
1
Tumor category includes Sertoli-Leydig cell tumors with retiform or gastrointestinal-type heterologous elements;
2
Tumor category includes Sertoli-Leydig cell tumors with rhabdomyosarcomatous elements.