Mutation profile of TN patients identified as having somatic or germline mutations
| Sex . | Age at diagnosis, y . | Gene . | VAF, % . | Treatment . | Platelet count, ×109/L . |
|---|---|---|---|---|---|
| Male | 45 | MPL W515R | 5 | HC | 457 |
| Male | 14 | MPL R537W | 2 | Nil | 521 |
| Female | 19 | MPL P453R* | 52 | IFN | 471 |
| Male | 26 | MPL S505N* | 52 | Nil | 1024 |
| Male | 55 | MPL S505N* | 52 | HC | 466 |
| Female | 38 | MPL | Nil | 1053 | |
| W5151G | 10 | ||||
| and W515S | 10 | ||||
| Female | 45 | JAK2V617F | 2 | HC | 325 |
| Female | 52 | JAK2V617F | 4 | Nil | 437 |
| Female | 36 | JAK2V617F | 8 | HC | 310 |
| Female | 69 | JAK2V617F | 2 | HC | 416 |
| Sex . | Age at diagnosis, y . | Gene . | VAF, % . | Treatment . | Platelet count, ×109/L . |
|---|---|---|---|---|---|
| Male | 45 | MPL W515R | 5 | HC | 457 |
| Male | 14 | MPL R537W | 2 | Nil | 521 |
| Female | 19 | MPL P453R* | 52 | IFN | 471 |
| Male | 26 | MPL S505N* | 52 | Nil | 1024 |
| Male | 55 | MPL S505N* | 52 | HC | 466 |
| Female | 38 | MPL | Nil | 1053 | |
| W5151G | 10 | ||||
| and W515S | 10 | ||||
| Female | 45 | JAK2V617F | 2 | HC | 325 |
| Female | 52 | JAK2V617F | 4 | Nil | 437 |
| Female | 36 | JAK2V617F | 8 | HC | 310 |
| Female | 69 | JAK2V617F | 2 | HC | 416 |
HC, hydroxycarbamide; IFN, interferon; Nil, no treatment; VAF, variant allele frequency.
*Germline mutations.