Table 1. Patient characteristics.
| Patient no. | Disease entity | Origin of sample | BCR-ABL status | JAK2V617F (allele burden) | Spleen size (below costal margin) |
|---|---|---|---|---|---|
| 1 | CML-AP | bm | positive | NA | enlarged 18cm |
| 2 | CML-BC | pb | positive | NA | not enlarged |
| 3 | CML-AP | bm | positive | NA | not enlarged |
| 4 | CML-CP | bm | positive | negative | not enlarged |
| 5 | CML-CP | pb | positive | NA | enlarged |
| 6 | CML-CP | pb | positive | negative | not enlarged |
| 7 | CML-CP | bm | positive | NA | not enlarged |
| 8 | CML-CP | bm | positive | NA | not enlarged |
| 9 | CML-CP | pb | positive | NA | enlarged 10cm |
| 10 | CML-CP | pb | positive | NA | NA |
| 11 | ET | pb | negative | V617F (64%) | not enlarged |
| 12 | ET | pb | negative | negative | not enlarged |
| 14 | ET | pb | negative | negative | NA |
| 15 | ET | pb | negative | negative | not enlarged |
| 16 | ET | bm | negative | negative | not enlarged |
| 17 | ET | pb | negative | V617F (35%) | not enlarged |
| 18 | ET | pb | negative | negative | not enlarged |
| 19 | ET | pb | NA | negative | not enlarged |
| 20 | ET | pb | negative | V617F (16%) | not enlarged |
| 21 | ET | pb | negative | V617F (18%) | not enlarged |
| 22 | HES | bm | negative | negative | not enlarged |
| 23 | HES | bm | NA | negative | not enlarged |
| 24 | HES | pb | negative | negative | not enlarged |
| 25 | HES | pb | negative | V617F (80%) | not enlarged |
| 26 | HES | pb | NA | NA | NA |
| 27 | MF post ET | pb | negative | 95% | enlarged 20cm |
| 28 | MF post PV | pb | negative | 71% | enlarged 10cm |
| 29 | MF post PV | pb | negative | 93% | enlarged 12cm |
| 30 | MF post PV | pb | NA | 99% | enlarged 24cm |
| 31 | MF post PV | pb | negative | 93% | enlarged 9cm |
| 32 | MF post PV | pb | negative | 99% | enlarged 30cm |
| 33 | MF post PV | pb | negative | 52% | enlarged 15cm |
| 34 | MF post PV | pb | NA | 99% | enlarged 18cm |
| 36 | pMF | pb | negative | 46% | not enlarged |
| 37 | MF post PV | pb | negative | 82% | enlarged 12cm |
| 38 | pMF | pb | negative | 31% | enlarged 15cm |
| 39 | pMF | pb | negative | 65% | enlarged 10cm |
| 40 | pMF | pb | negative | negative | enlarged 8cm |
| 41 | pMF | bm | NA | 28% | enlarged 10cm |
| 42 | pMF | pb | negative | negative | enlarged |
| 43 | pMF | pb | negative | 10% | not enlarged |
| 44 | pMF | pb | negative | 87% | enlarged 4cm |
| 45 | pMF | pb | negative | 41% | enlarged 5cm |
| 46 | pMF | pb | negative | negative | NA |
| 47 | CML+ PV | pb | positive | 54% | not enlarged |
| 48 | PV | pb | negative | 28% | not enlarged |
| 49 | PV | pb | negative | 15% | not enlarged |
| 50 | PV | pb | NA | 84% | not enlarged |
| 51 | PV | pb | NA | 37% | enlarged 1–2cm |
| 52 | PV | pb | NA | 32% | not enlarged |
| 53 | PV | pb | NA | 93% | enlarged 6cm |
| 54 | PV + systemic mastocytosis | pb | NA | 29% | not enlarged |
| 55 | PV | pb | negative | 88% | enlarged 10cm |
| 56 | PV | pb | negative | 30% | not enlarged |
| 57 | PV | pb | negative | 41% | enlarged 2cm |
| 58 | PV | pb | negative | 76% | not enlarged |
| 59 | PV | pb | negative | 96% | NA |
| 60 | PV | pb | NA | 19% | not enlarged |
| 61 | PV | pb | negative | 27% | not enlarged |
| 62 | PV | pb | negative | 42% | not enlarged |
| 63 | PV | pb | negative | 23% | enlarged 11cm |
| 64 | RE | pb | negative | negative | not enlarged |
| 65 | RE | bm | negative | negative | not enlarged |
| 66 | RE | pb | negative | negative | not enlarged |
| 67 | SM | bm | NA | NA | enlarged |
| 68 | SM | pb | negative | negative | not enlarged |
| 69 | CML-BC/Ph+ ALL | pb | positive | n.d. | NA |
Abbrevations: CML = chronic myeloid leukemia, CP = chronic phase, AP = accelerated phase, BC = blast crisis; ET = essential thrombocythemia; PV = polycythemia vera; HES = hypereosinophilic syndrome; MF = myelofibrosis, ALL = acute lymphoblastic leukemia, bm = bone marrow; pb = peripheral blood. If JAK2V617F positive, the allele burden of the c.1849G>T mutation (which leads to V617F) detected by NGS is shown in percent of total JAK2 sequences