Clonality analysis, PRV-1 mRNA expression, and the in vitro response of erythroid progenitors to Epo in patients with polycythemias and thrombocytosis
| Patient no. . | Clonality . | PRV-1/GAPDH . | BFU-E response to Epo . | Hb . | Plt . | Age, y . | Duration of disease, y . | Therapy at time of analysis . | Therapy prior to analysis . | Diagnosis . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Clonal | ND | EEC | H | H | 62 | 13 | HU, P | HU, P | PV |
| 2 | Clonal | 20.32* | EEC | H | H | 58 | 5 | HU, P | A, P | PV |
| 3 | Clonal | 16.62* | EEC | H | H | 71 | 6 | P | P | PV |
| 4 | Clonal | 14.88* | EEC | H | H | 56 | 10 | HU | HU | PV |
| 5 | Clonal | 23.10* | EEC | H | H | 64 | 1 | A, P | — | PV |
| 6 | Clonal | 15.08* | EEC | H | H | 74 | 1 | No | No | PV |
| 7 | Clonal | 6.04* | EEC | H | H | 54 | 5 | A | HU, B | PV |
| 8 | Clonal | 4.71* | EEC | H | H | 47 | 8 | P | P | PV |
| 9 | Clonal | 5.52* | EEC | H | H | 55 | 9 | HU, P | HU, P | PV |
| 10 | Clonal | 4.17* | EEC | H | H | 62 | 8 | P | P | PV |
| 11 | Clonal | 1.85 | EEC | H | H | 62 | 5 | HU | HU | PV |
| 12 | Clonal | 1.18 | EEC | H | H | 36 | 4 | No | No | PV |
| 13 | Clonal | 1.55 | EEC | H | H | 56 | 22 | P | P | PV |
| 14 | Clonal | 0.76 | EEC | H | H | 51 | 5 | A, P | HU, P | PV |
| 15 | Clonal | 0.03 | Normal | H | H | 47 | 15 | No | HU, P | UP |
| 16 | Poly | 4.59* | HS | H | N | 43 | 1 | HU | No | UP |
| 17 | Poly | 0.24 | HS | H | N | 8 | 5 | P | P | UP |
| 18 | Poly | ND | HS | H | N | 24 | 24 | P | P | CFP |
| 19 | Poly | 4.00* | HS | H | N | 5 | 5 | No | P | CFP |
| 20 | Poly | 0.86 | HS | H | N | 23 | 2 | P | No | CFP |
| 21 | Poly | 1.25 | HS | H | N | 53 | 53 | P | P | CFP |
| 22 | Poly | 0.48 | HS | H | N | 71 | >5 | No | No | CFP |
| 23 | Poly | 0.44 | HS | H | N | 22 | 22 | P | P | CFP |
| 24 | Poly | 0.44 | HS | H | N | 54 | 22 | No | No | CFP |
| 25 | Poly | 0.17 | HS | H | N | 9 | 9 | No | No | CFP |
| 26 | Poly | 0.22 | HS | H | N | 17 | 12 | P | P | CFP |
| 27 | Poly | 0.02 | HS | H | N | 38 | >2 | No | — | CFP |
| 28 | Poly | 0.11 | HS | H | N | 50 | — | No | No | CFP |
| 29 | Poly | 0.07 | HS | H | N | 7 | 7 | P | No | CFP |
| 30 | Poly | 0.8 | Normal | H | N | 59 | — | No | No | CFP? UP |
| 31 | Poly | 0.03 | Normal | H | N | 6 | 6 | P | P | CFP |
| 32 | Poly | 0.19 | Normal | H | N | 39 | >30 | P | HU, P | CFP |
| 33 | Clonal | 8.51* | EEC | N | H | 63 | 4 | HU, A | HU | ET |
| 34 | Clonal | 1.65 | EEC | N | H | 23 | 6 | No | No | ET |
| 35 | Clonal | 1.40 | EEC | N | H | 42 | 4 | A | A | ET |
| 36 | Clonal | 0.21 | EEC | N | H | 60 | 17 | HU | HU | ET |
| 37 | Clonal | 35.38* | Normal | N | H | 42 | 11 | No | No | ET |
| 38 | Clonal | 1.29 | Normal | N | H | 55 | 2 | A | HU, A | ET |
| 39 | Clonal | 0.44 | Normal | N | H | 31 | 15 | A | HU | ET |
| 40 | Clonal | 0.02 | Normal | N | H | 51 | 11 | No | No | ET |
| 41 | Poly | 0.06 | HS | N | H | 47 | 5 | HU | HU | ET |
| 42 | Poly | 0.80 | HS | N | H | 46 | 14 | HU | HU | ET |
| 43 | Poly | 0.07 | Normal | N | H | 41 | 2 | A | No | ET |
| 44 | Poly | 1.8 | Normal | N | H | — | 3 | A | HU | ET |
| 45 | Poly | 0.07 | HS | N | H | 7 | 1 | No | No | FT |
| 46 | Poly | ND | HS | N | H | — | — | IFN | HU | FT |
| Patient no. . | Clonality . | PRV-1/GAPDH . | BFU-E response to Epo . | Hb . | Plt . | Age, y . | Duration of disease, y . | Therapy at time of analysis . | Therapy prior to analysis . | Diagnosis . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Clonal | ND | EEC | H | H | 62 | 13 | HU, P | HU, P | PV |
| 2 | Clonal | 20.32* | EEC | H | H | 58 | 5 | HU, P | A, P | PV |
| 3 | Clonal | 16.62* | EEC | H | H | 71 | 6 | P | P | PV |
| 4 | Clonal | 14.88* | EEC | H | H | 56 | 10 | HU | HU | PV |
| 5 | Clonal | 23.10* | EEC | H | H | 64 | 1 | A, P | — | PV |
| 6 | Clonal | 15.08* | EEC | H | H | 74 | 1 | No | No | PV |
| 7 | Clonal | 6.04* | EEC | H | H | 54 | 5 | A | HU, B | PV |
| 8 | Clonal | 4.71* | EEC | H | H | 47 | 8 | P | P | PV |
| 9 | Clonal | 5.52* | EEC | H | H | 55 | 9 | HU, P | HU, P | PV |
| 10 | Clonal | 4.17* | EEC | H | H | 62 | 8 | P | P | PV |
| 11 | Clonal | 1.85 | EEC | H | H | 62 | 5 | HU | HU | PV |
| 12 | Clonal | 1.18 | EEC | H | H | 36 | 4 | No | No | PV |
| 13 | Clonal | 1.55 | EEC | H | H | 56 | 22 | P | P | PV |
| 14 | Clonal | 0.76 | EEC | H | H | 51 | 5 | A, P | HU, P | PV |
| 15 | Clonal | 0.03 | Normal | H | H | 47 | 15 | No | HU, P | UP |
| 16 | Poly | 4.59* | HS | H | N | 43 | 1 | HU | No | UP |
| 17 | Poly | 0.24 | HS | H | N | 8 | 5 | P | P | UP |
| 18 | Poly | ND | HS | H | N | 24 | 24 | P | P | CFP |
| 19 | Poly | 4.00* | HS | H | N | 5 | 5 | No | P | CFP |
| 20 | Poly | 0.86 | HS | H | N | 23 | 2 | P | No | CFP |
| 21 | Poly | 1.25 | HS | H | N | 53 | 53 | P | P | CFP |
| 22 | Poly | 0.48 | HS | H | N | 71 | >5 | No | No | CFP |
| 23 | Poly | 0.44 | HS | H | N | 22 | 22 | P | P | CFP |
| 24 | Poly | 0.44 | HS | H | N | 54 | 22 | No | No | CFP |
| 25 | Poly | 0.17 | HS | H | N | 9 | 9 | No | No | CFP |
| 26 | Poly | 0.22 | HS | H | N | 17 | 12 | P | P | CFP |
| 27 | Poly | 0.02 | HS | H | N | 38 | >2 | No | — | CFP |
| 28 | Poly | 0.11 | HS | H | N | 50 | — | No | No | CFP |
| 29 | Poly | 0.07 | HS | H | N | 7 | 7 | P | No | CFP |
| 30 | Poly | 0.8 | Normal | H | N | 59 | — | No | No | CFP? UP |
| 31 | Poly | 0.03 | Normal | H | N | 6 | 6 | P | P | CFP |
| 32 | Poly | 0.19 | Normal | H | N | 39 | >30 | P | HU, P | CFP |
| 33 | Clonal | 8.51* | EEC | N | H | 63 | 4 | HU, A | HU | ET |
| 34 | Clonal | 1.65 | EEC | N | H | 23 | 6 | No | No | ET |
| 35 | Clonal | 1.40 | EEC | N | H | 42 | 4 | A | A | ET |
| 36 | Clonal | 0.21 | EEC | N | H | 60 | 17 | HU | HU | ET |
| 37 | Clonal | 35.38* | Normal | N | H | 42 | 11 | No | No | ET |
| 38 | Clonal | 1.29 | Normal | N | H | 55 | 2 | A | HU, A | ET |
| 39 | Clonal | 0.44 | Normal | N | H | 31 | 15 | A | HU | ET |
| 40 | Clonal | 0.02 | Normal | N | H | 51 | 11 | No | No | ET |
| 41 | Poly | 0.06 | HS | N | H | 47 | 5 | HU | HU | ET |
| 42 | Poly | 0.80 | HS | N | H | 46 | 14 | HU | HU | ET |
| 43 | Poly | 0.07 | Normal | N | H | 41 | 2 | A | No | ET |
| 44 | Poly | 1.8 | Normal | N | H | — | 3 | A | HU | ET |
| 45 | Poly | 0.07 | HS | N | H | 7 | 1 | No | No | FT |
| 46 | Poly | ND | HS | N | H | — | — | IFN | HU | FT |
PRV-1/GAPDH is the ratio of PRV-1 to GAPDH mRNA in granulocytes; values marked with an asterisk are increased above the 95% CI based on 33 healthy controls (mean PRV-1/GAPDH and 95% CI for the 33 normal controls: 0.33, 0.023-3.45, respectively). The diagnosis is the presumed clinical diagnosis.
BFU-E indicates erythroid burst-forming units; Hb, hemoglobin; Plt, platelet; ND, not done; EEC, endogenous erythroid colonies growing in the absence of added Epo; H, high value at diagnosis; HU, hydroxurea; P, phlebotomy; PV, polycythemia vera; A, anagrelide; No, no treatment; B, busulfan; UP, unexplained polycythemia; Poly, polyclonal; HS, hypersensitivity of erythroid progenitors manifesting as the growth of erythroid colonies in the presence of 30 and 60 mlU Epo/mL culture; N, normal value at diagnosis; CFP, congenital or familial polycythemia; ET, essential thrombocythemia; IFN, interferon; and FT, familial thrombosis.