Validation of quantitative clonality assay in patients with hematologic disorders
| Patient . | Diagnosis . | Age, y . | Somatic mutations (allele frequency) . | Allelic frequencies of expressed exonic polymorphism in platelets . | |||||
|---|---|---|---|---|---|---|---|---|---|
| JAK2V617F . | cMPLW515L . | MPP1 . | FHL1 . | IDS . | BTK . | G6PD . | |||
| P1 | ET | 55 | 2.2 | 53.5 | 88/12 | ||||
| P2 | ET | 57 | 24.3 | 0 | 1/99 | ||||
| P3 | ET | 57 | 19.2 | 0 | 98/2 | 4/96 | |||
| P4 | ET | 60 | 44 | 0 | 9/91 | 96/4 | |||
| P5 | PMF | 66 | 53 | 0 | 3/97 | ||||
| P6 | PMF with AML | 41 | 0 | 0 | 2/98 | 2/98 | |||
| P7 | PMF with AML | 51 | 6.2 | 0 | 100/0 | 100/0 | |||
| P8 | PV | 8 | 20 | 0 | 96/4 | 100/0 | 94/6 | ||
| P9 | PV | 49 | 75.8 | 0 | 100/0 | 95/5 | |||
| P10 | PV | 50 | 15.4 | 0 | 100/0 | 3/97 | |||
| P11 | PV | 61 | 97 | 0 | 98/2 | 100/0 | 2/98 | ||
| P12 | PV | 74 | 44.5 | 0 | 1/99 | ||||
| P13 | PV | 74 | 94.3 | 0 | 98/2 | ||||
| P14 | PV | 80 | 65.6 | 0 | 100/0 | 0/100 | |||
| P15 | PV | 90 | 40.2 | - | 99/1 | ||||
| P16 | Sec erythro | 37 | 0 | 0 | 53/47 | ||||
| P17 | Sec erythro | 42 | 0 | 0 | 42/58 | 50/50 | |||
| P18 | Sec erythro | 47 | 0 | 0 | 58/42 | ||||
| P19 | Sec erythro | 47 | 0 | 0 | 35/65 | 52/48 | |||
| P20 | Sec leuko | 78 | 0 | 0 | 70/30 | ||||
| P21 | Sec thrombo | 37 | 0 | 0 | 70/30 | 60/40 | |||
| P22 | Sec thrombo | 46 | 0 | 0 | 30/70 | ||||
| Patient . | Diagnosis . | Age, y . | Somatic mutations (allele frequency) . | Allelic frequencies of expressed exonic polymorphism in platelets . | |||||
|---|---|---|---|---|---|---|---|---|---|
| JAK2V617F . | cMPLW515L . | MPP1 . | FHL1 . | IDS . | BTK . | G6PD . | |||
| P1 | ET | 55 | 2.2 | 53.5 | 88/12 | ||||
| P2 | ET | 57 | 24.3 | 0 | 1/99 | ||||
| P3 | ET | 57 | 19.2 | 0 | 98/2 | 4/96 | |||
| P4 | ET | 60 | 44 | 0 | 9/91 | 96/4 | |||
| P5 | PMF | 66 | 53 | 0 | 3/97 | ||||
| P6 | PMF with AML | 41 | 0 | 0 | 2/98 | 2/98 | |||
| P7 | PMF with AML | 51 | 6.2 | 0 | 100/0 | 100/0 | |||
| P8 | PV | 8 | 20 | 0 | 96/4 | 100/0 | 94/6 | ||
| P9 | PV | 49 | 75.8 | 0 | 100/0 | 95/5 | |||
| P10 | PV | 50 | 15.4 | 0 | 100/0 | 3/97 | |||
| P11 | PV | 61 | 97 | 0 | 98/2 | 100/0 | 2/98 | ||
| P12 | PV | 74 | 44.5 | 0 | 1/99 | ||||
| P13 | PV | 74 | 94.3 | 0 | 98/2 | ||||
| P14 | PV | 80 | 65.6 | 0 | 100/0 | 0/100 | |||
| P15 | PV | 90 | 40.2 | - | 99/1 | ||||
| P16 | Sec erythro | 37 | 0 | 0 | 53/47 | ||||
| P17 | Sec erythro | 42 | 0 | 0 | 42/58 | 50/50 | |||
| P18 | Sec erythro | 47 | 0 | 0 | 58/42 | ||||
| P19 | Sec erythro | 47 | 0 | 0 | 35/65 | 52/48 | |||
| P20 | Sec leuko | 78 | 0 | 0 | 70/30 | ||||
| P21 | Sec thrombo | 37 | 0 | 0 | 70/30 | 60/40 | |||
| P22 | Sec thrombo | 46 | 0 | 0 | 30/70 | ||||
ET indicates essential thrombocythemia PMF, primary myelofibrosis; AML, acute myeloid leukemia; PV, polycythemia vera; Sec, secondary; erythro, erythrocytosis; leuko, leukocytosis; and thrombo, thrombocytosis. Blank cells indicate not informative and thus not determined.