Table 1.
Exon 12 mutation and VAF of 4 patients analyzed with NGS method
| ID | Age (y) | sex | WBC | PLT | Hematocrit % | RCM | EPO mIU/mL | NGS | VAF |
|---|---|---|---|---|---|---|---|---|---|
| Patient #1 | 56 | M | 14.4 | 330 | 64.5 | NA | 1.7 |
JAK2 exon 12 p.K539L |
8% |
| Patient #2 | 97 | F | 6.40 | 408 | 41a | NA | 9.4 |
JAK2 exon 12 p.E543‐D544del |
13% |
| Patient #3 | 57 | M | NA | NA | 53 | +57% | 0.6 |
JAK2 exon 12 p.N542‐E543del |
6% |
| Patient #4 | 53 | M | NA | NA | NA | +35% | 1 |
JAK2 exon 12 p.F537‐K539del‐insL |
13% |
a
The quite low hematocrit rate of patient #2 is explained because she was treated with hydroxyurea for a triple‐negative thrombocythemia when the JAK2 exon 12 was noted.