Mutational analysis in PV patients
| ID . | Subgroup . | JAK2-V617F allele burden (ddPCR) . | Mutational analysis (low burden, medium-high burden; RNA-seq based) . |
|---|---|---|---|
| PV1/8/12 | PVchron.UT | JAK2-V617F, EZH2 | |
| PV8 | PVchron.UT | JAK2-V617F, EZH2 | |
| PV16 | PVchron.UT | 43% | JAK2-V617F, TET2 |
| PV13 | PVchron.UT | 78% | JAK2-V617F, FLT3 |
| PV6 | PVchron.UT | 93% | JAK2-V617F, FLT3, TET2, BCOR |
| PV14 | PVchron.UT | 97% | JAK2-V617F, IDH1 |
| PV9 | PVchron.UT | 92% | JAK2-V617F |
| PV4 | PVchron.HU | 4% | TET2, BCOR, STAG2 |
| PV5 | PVchron.UT and PVchron.HU* | 43% | JAK2-V617F, DNMT3A, TET2, CUX1, KMT2C |
| PV3 | PVchron.HU | 95% | JAK2-V617F, NF1, IDH1, TET2, KMT2C |
| PV2 | PVchron.HU | JAK2-V617F, GATA2 | |
| PV7† | PVchron.HU | EZH2 | |
| PV18 | PVprog.UT | 98% | JAK2-V617F, TET2 |
| PV17 | PVprog.UT | JAK2-V617F, SF3B1, EZH2 | |
| PV11 | PVprog.HU | 99% | JAK2-V617F, PPM1D, DNMT3A, KIT, TET2 |
| PV15 | PVprog.HU | JAK2-V617F, TET2 | |
| PV10 | PVprog.HU | JAK2-V617F, FLT3, TET2 |
| ID . | Subgroup . | JAK2-V617F allele burden (ddPCR) . | Mutational analysis (low burden, medium-high burden; RNA-seq based) . |
|---|---|---|---|
| PV1/8/12 | PVchron.UT | JAK2-V617F, EZH2 | |
| PV8 | PVchron.UT | JAK2-V617F, EZH2 | |
| PV16 | PVchron.UT | 43% | JAK2-V617F, TET2 |
| PV13 | PVchron.UT | 78% | JAK2-V617F, FLT3 |
| PV6 | PVchron.UT | 93% | JAK2-V617F, FLT3, TET2, BCOR |
| PV14 | PVchron.UT | 97% | JAK2-V617F, IDH1 |
| PV9 | PVchron.UT | 92% | JAK2-V617F |
| PV4 | PVchron.HU | 4% | TET2, BCOR, STAG2 |
| PV5 | PVchron.UT and PVchron.HU* | 43% | JAK2-V617F, DNMT3A, TET2, CUX1, KMT2C |
| PV3 | PVchron.HU | 95% | JAK2-V617F, NF1, IDH1, TET2, KMT2C |
| PV2 | PVchron.HU | JAK2-V617F, GATA2 | |
| PV7† | PVchron.HU | EZH2 | |
| PV18 | PVprog.UT | 98% | JAK2-V617F, TET2 |
| PV17 | PVprog.UT | JAK2-V617F, SF3B1, EZH2 | |
| PV11 | PVprog.HU | 99% | JAK2-V617F, PPM1D, DNMT3A, KIT, TET2 |
| PV15 | PVprog.HU | JAK2-V617F, TET2 | |
| PV10 | PVprog.HU | JAK2-V617F, FLT3, TET2 |
Specific point mutations identified in the various cell subpopulations of the PV patients tested. Low burden, only seen in one cell subpopulation (given that more than one cell subpopulation was measured) at allele burden less than 40%; medium-high burden, everything that is more than low burden. Mutations occurring at medium-high burden are marked in bold. See also supplemental Figure 4.
Chron, chronic; HU, under treatment with hydroxyurea; prog, progressed; UT, untreated.
Two sets of samples collected.
Not enough material for full mutational analysis.