Clinical, laboratory and molecular characteristics of patients with MPL515 mutations (at the time of MPL515 testing)
Patient no. . | Sex/age, y, at diagnosis . | Diagnosis . | JAK2V617F status . | MPL515 status . | MPL515 mutant peak/wild-type peak ratio, % . | Cytogenetics . | Hgb, g/dL . | WBC count, × 109/L . | Platelet count, × 109/L . | AML . | Status at last follow-up . | Duration of follow-up, mo . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Mayo study | ||||||||||||
1 | M/32 | De novo MMM | WT | W515L | < 50 | Normal | 11.4 | 5.5 | 436 | No | Alive | 40 |
2 | M/46 | De novo MMM | Heterozygous | W515L | < 50 | del(13q) | 9.5 | 5.3 | 379 | No | Deceased | 91 |
3 | M/64 | De novo MMM | WT | W515L | < 50 | del(20q) | 9.9 | 5.7 | 182 | No | Alive | 94 |
4 | M/60 | De novo MMM | WT | W515K | < 50 | Normal | 8.3 | 4.5 | 215 | No | Alive | 30 |
5 | M/61 | De novo MMM | WT | W515L | < 50 | ND | 11.5 | 36.6 | 139 | No | Alive | 22 |
6 | M/75 | Post-de novo MMM AML (M0) | WT | W515L | > 50 | t(1;7) t(1;21)* | 9.0 | 72.1 | 161 | n/a | Deceased | 34 |
7 | F/52 | Post-de novo MMM AML (M2) | WT | W515K | 100 | Normal | 9.0 | 10.6 | 430 | n/a | Alive | 67 |
8 | M/49 | De novo MMM | Heterozygous | W515L + W515K | < 50 | Normal | 8.2 | 4.6 | 40 | No | Alive | 23 |
9 | F/53 | De novo MMM | Heterozygous | W515L + W515K | < 50 | Complex abnormalities | 6.3 | 8.5 | 124 | Yes | Deceased | 20 |
10 | M/58 | De novo MMM | WT | W515K | 100 | del(11q)* | 11.5 | 10.3 | 146 | No | Alive | 108 |
11 | M/71 | ET | WT | W515L | < 50 | Normal | 14.0 | 6.9 | 959 | No | Alive | 168 |
12 | F/67 | ET | WT | W515L | > 50 | t(1;21) | 9.1 | 4.1 | 1539 | Yes | Deceased | 172 |
13 | M/81 | Post-ET MMM AML (M2) | WT | W515L | 100 | t(8;21) | 9.6 | 47.4 | 161 | n/a | Deceased | 72 |
Harvard study | ||||||||||||
14 | F/59 | De novo MMM | WT | W515L | NA | Normal | NA | NA | NA | No | Alive | NA |
15 | F/5 | De novo MMM | WT | W515L | NA | Normal | 9.4 | 7.5 | 261 | No | Alive | NA |
16 | M/58 | De novo MMM | WT | W515L | NA | del(16q)* | 10.8 | 7.2 | 120 | Yes | Deceased | 36 |
17 | F/68 | De novo MMM | WT | W515L | NA | Normal | 10.1 | 17.7 | 559 | No | Alive | 96 |
18 | F/45 | ET | Heterozygous | W515L | NA | Normal | NA | NA | NA | No | Alive | 24 |
19 | F/56 | ET | Heterozygous | W515L | NA | Normal | NA | NA | 658 | No | Alive | 168 |
20 | F/67 | Post-ET MMM | Heterozygous | W515L | NA | Normal | NA | NA | 650 | No | Alive | NA |
Patient no. . | Sex/age, y, at diagnosis . | Diagnosis . | JAK2V617F status . | MPL515 status . | MPL515 mutant peak/wild-type peak ratio, % . | Cytogenetics . | Hgb, g/dL . | WBC count, × 109/L . | Platelet count, × 109/L . | AML . | Status at last follow-up . | Duration of follow-up, mo . |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Mayo study | ||||||||||||
1 | M/32 | De novo MMM | WT | W515L | < 50 | Normal | 11.4 | 5.5 | 436 | No | Alive | 40 |
2 | M/46 | De novo MMM | Heterozygous | W515L | < 50 | del(13q) | 9.5 | 5.3 | 379 | No | Deceased | 91 |
3 | M/64 | De novo MMM | WT | W515L | < 50 | del(20q) | 9.9 | 5.7 | 182 | No | Alive | 94 |
4 | M/60 | De novo MMM | WT | W515K | < 50 | Normal | 8.3 | 4.5 | 215 | No | Alive | 30 |
5 | M/61 | De novo MMM | WT | W515L | < 50 | ND | 11.5 | 36.6 | 139 | No | Alive | 22 |
6 | M/75 | Post-de novo MMM AML (M0) | WT | W515L | > 50 | t(1;7) t(1;21)* | 9.0 | 72.1 | 161 | n/a | Deceased | 34 |
7 | F/52 | Post-de novo MMM AML (M2) | WT | W515K | 100 | Normal | 9.0 | 10.6 | 430 | n/a | Alive | 67 |
8 | M/49 | De novo MMM | Heterozygous | W515L + W515K | < 50 | Normal | 8.2 | 4.6 | 40 | No | Alive | 23 |
9 | F/53 | De novo MMM | Heterozygous | W515L + W515K | < 50 | Complex abnormalities | 6.3 | 8.5 | 124 | Yes | Deceased | 20 |
10 | M/58 | De novo MMM | WT | W515K | 100 | del(11q)* | 11.5 | 10.3 | 146 | No | Alive | 108 |
11 | M/71 | ET | WT | W515L | < 50 | Normal | 14.0 | 6.9 | 959 | No | Alive | 168 |
12 | F/67 | ET | WT | W515L | > 50 | t(1;21) | 9.1 | 4.1 | 1539 | Yes | Deceased | 172 |
13 | M/81 | Post-ET MMM AML (M2) | WT | W515L | 100 | t(8;21) | 9.6 | 47.4 | 161 | n/a | Deceased | 72 |
Harvard study | ||||||||||||
14 | F/59 | De novo MMM | WT | W515L | NA | Normal | NA | NA | NA | No | Alive | NA |
15 | F/5 | De novo MMM | WT | W515L | NA | Normal | 9.4 | 7.5 | 261 | No | Alive | NA |
16 | M/58 | De novo MMM | WT | W515L | NA | del(16q)* | 10.8 | 7.2 | 120 | Yes | Deceased | 36 |
17 | F/68 | De novo MMM | WT | W515L | NA | Normal | 10.1 | 17.7 | 559 | No | Alive | 96 |
18 | F/45 | ET | Heterozygous | W515L | NA | Normal | NA | NA | NA | No | Alive | 24 |
19 | F/56 | ET | Heterozygous | W515L | NA | Normal | NA | NA | 658 | No | Alive | 168 |
20 | F/67 | Post-ET MMM | Heterozygous | W515L | NA | Normal | NA | NA | 650 | No | Alive | NA |
MPL515 mutant peak/wild-type peak ratio was the ratio on sequencing chromatogram × 100. MMM indicates myelofibrosis with myeloid metaplasia; ET, essential thrombocythemia; AML, acute myeloid leukemia; WT, wild type; Hgb, hemoglobin; n/a, not applicable; NA, not available; and ND, not done
Cytogenetic abnormalities developed after identification of MPL515 mutations