Table 1.
Summary of the frequency of recurrent mutations in ENKTL. The overall frequency of mutations is expressed as a percentage of mutated cases out of the total number of cases tested. The reported frequency is available for comparison. Mutations reported in two or more studies are highlighted in bold. See Table S2 for further details.
| Gene | Reported Frequency | No. of Positive Cases (Total No. of Cases Tested) | Overall Frequency (%) |
|---|---|---|---|
| ARID1A | 6 | 6 (105) | 5.7 |
| ASXL3 | 4 | 4 (105) | 3.8 |
| BCOR | 6–32 | 20 (147) | 13.6 |
| b-catenin | 16–30 | 41 (179) | 22.9 |
| BIRC3 | 3 | 3 (88) | 3.4 |
| BAK | 25.9 | 7 (27) | 25.9 |
| CHPF2 | 4 | 4 (105) | 3.8 |
| C-KIT | 5–52 | 30 (170) | 18.8 |
| CMPK1 | 2 | 2 (88) | 2.3 |
| DDX3X | 8–50 | 33 (283) | 11.7 |
| ECSIT | 19 | 17 (88) | 19.3 |
| EP300 | 4–6 | 7 (156) | 4.5 |
| FAT4 | 2–8 | 4 (113) | 3.5 |
| FAS | 4 | 3 (76) | 3.9 |
| IKBKB | 2 | 2 (88) | 2.3 |
| IL6R | 6 | 2(34) | 5.9 |
| JAK1 | 2-8 | 3 (90) | 3.3 |
| JAK3 | 5-35 | 36 (227) | 13 |
| KRAS | 3–25 | 11 (251) | 4.4 |
| MLL2 | 2–18 | 14(190) | 7.4 |
| MLL3 | 12 | 3 (25) | 12 |
| MSH3 | 2 | 2 (88) | 2.3 |
| M6PR | 2 | 2 (88) | 2.3 |
| MIR17HG | 8 | 2 (25) | 8 |
| MSN | 9 | 9 (105) | 8.6 |
| MGAM | 4 | 4 (105) | 3.8 |
| MGA | 9 | 9 (105) | 8.6 |
| NRAS | 2–25 | 6 (227) | 2.6 |
| NOTCH2 | 2–25 | 3 (153) | 2 |
| STAT1 | 4 | 1 (25) | 4 |
| STAT3 | 1–26 | 30 (387) | 8.3 |
| STAT5B | 2–6 | 8 (244) | 3.3 |
| STAT6 | 4 | 1 (25) | 4 |
| TP53 | 4–63 | 139 (611) | 22.7 |
| TET2 | 8 | 2 (25) | 8 |
| WDR66 | 2 | 2 (88) | 2.3 |