Table 8. Summary of patient characteristics, mutation types, and allele burdens in patients with both JAK2 and CALR mutations in this study and previous studies.
No. Case | Diagnosis | Sex | Age | CALR mutation | CALR allele burden (%) | JAK2 allele burden (%) | Reference |
---|---|---|---|---|---|---|---|
1 | ET | U | U | U | U | U | [4] |
2 | RARS-T | F | 73 | c.1129_1138del | U | 4 | [5] |
3 | PMF | U | U | c.1092_1143del (type 1) | U | U | [6] |
4 | ET | F | 79 | c.1094_1139del (type 6) | 10.5 | <1 | [7] |
5–8 | PMF | U | U | U | U | U | [8] |
9 | ET | U | U | c.1092_1143del (type 1) | U | 0.03 | [9] |
10 | ET | F | 62 | c.1095_1140del (type 3) | 24.22 | 0.16 | this study |
11 | ET | M | 29 | c.1144del | 50.37 | 0.27 | this study |
12 | ET | F | 71 | c.1092_1143del (type 1) | 61.08 | 0.12 | this study |
13 | ET | F | 61 | U* | 4.47 | 0.10 | this study |
14 | ET | F | 74 | c.1092_1143del (type 1) | 89.48 | 0.38 | this study |
15 | ET | M | 37 | c.1092_1143del (type 1) | 40.65 | 0.14 | this study |
16 | ET | M | 57 | c.1154_1155insTTGTC (type 2) | 36.92 | 0.26 | this study |
17 | ET | F | 77 | c.1092_1143del (type 1) | 47.54 | 0.28 | this study |
ET, essential thrombocythemia; RARS-T, refractory anemia with ringed sideroblasts and marked thrombocytosis; PMF, primary myelofibrosis; U, unknown; F, female; M, male.
CALR mutations were detected only via gene fragment analysis owing to low allele burden.