Table 2 Cases with features overlapping with MDS/MPN-RS-T.
Case | Diagnosis | Fibrosis grade | WBC ×109/L | Hb (g/dL) | Platelets ×109/L | Ring sideroblasts | Megakaryocytes | Splenomegaly/LDH | Mutation (SF3B1/MPN-driver mutations) | Karyotype | Additional mutations | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Anemia and thrombocytosis, no or <15% ring sideroblasts | ||||||||||||
42 | PMF, overt | MF2 | 7.5 | 9.7 | 458 | 2% | PMF like | Yes/yes | 39%/MPL 38% | Normal | DNMT3A | |
54 | PMF, pre | MF0 | 15.1 | 10.3 | 657 | 0% | ET and PMF like | Yes/yes | 46%/JAK2 71% | Normal | No | |
58 | MDS/MPN-U, | MF0 | 2.7 | 10.2 | 579 | 0% | MDS like | No/NA | 23%/CALR 5% | 46,XY,del(7)(q32q34)[3]/46,XY[5]. | EZH2 | |
9 | MDS/MPN-U, | MF2 | 8.5 | 8.5 | 1144 | 7% | MDS like | No/yes (thrombotic incidence) | 36.2%/MPL 53.3% | Normal | SRSF2 | |
Anemia ≥15% ring sideroblasts no thrombocytosis | ||||||||||||
5 | PMF, overt | MF3 | 6.7 | 7.4 | 356 | 70% | PMF like | Yes/yes | 45%/JAK2 36.9% | 46,XX,del(13)(q12q14)[18]/46,XX[2] | No | |
4 | PMF, overt | MF3 | 31.2 | 9.1 | 45 | 30% | PMF like | Yes/yes | 33.2%/JAK2 82.5% | 46,XX,der(6)t(1;6)(q21;p23)[19]/46,XX[1] | DNMT3A, SETBP1 | |
3 | PMF, overt | MF3 | 7.2 | 7.7 | 123 | 50% | PMF like | Yes/yes | 44.2%/JAK2 32.2% | Normal | ASXL1 | |
7 | PMF, overt | MF3 | 2.7 | 7.3 | 29 | 50% | PMF like | Yes/yes | 32.1%/JAK2 27.3% | 46,XY,del(20)(q11.2q13.3)[20] | TET2 | |
8 | MPN-U, | MF1 | 8.2 | 11.8 | 116 | 15% | PMF like | Yes/no | 11.2%/JAK2 23.3% | Normal | U2AF1 | |
35 | PMF, overt | MF3 | 7.9 | 7.5 | 328 | 15% | MPN like | Yes/NA | 37.4%/JAK2 72.2% | Normal | SH2B3 | |
47 | MDS-MLD-RS | MF? | 3 | 10.1 | 332 | 30% | MDS like | No/NA | 13%/MPL 53% | Normal | DNMT3A, TET2, U2AF1 | |
65 | MDS-MLD-RS | MF? | 9.4 | 9.4 | 366 | 78% | MDS like | No/NA | 42%/JAK2 4% | Normal | DNMT3A, KRAS, RUNX1 | |
68 | MDS-MLD-RS | MF? | 5.4 | 7.5 | 158 | 56% | MDS like | No/no | 44.4%/JAK2 25.9% | Normal karyotype | TET2 | |
