Table 1 Clinical, follow-up and molecular information on Δ3’HMGA2-mutated patients.
Cohort-Sample | Cohort1_3.05 | Cohort1_4.23 | Cohort1_4.13 | Cohort1_enb.01 | Cohort2_1.7 | Cohort2_1.9 | Cohort2_1.33 | Cohort2_2.56 |
|---|---|---|---|---|---|---|---|---|
Sex | M | F | M | M | M | F | M | M |
Age at diagnosis (years) | 36 | 51 | 46 | 52 | 50 | 56 | 66 | 59 |
Diagnosis | Primary MF | post-ET MF | Primary MF | MF-BP | Primary MF | Primary MF | Primary MF | post-ET MF |
Disease phase | Overt MF | Overt MF | Prefibrotic MF | Blast Phase | Overt MF | Overt MF | Overt MF | Overt MF |
Blast % at diagnosis | 2 | 4 | 0 | 78 | 4 | 1 | 2 | 0 |
BM Fibrosis grade at Diagnosis | 3 | 2 | 1 | 3 | 2 | 3 | 2 | 2 |
Splenomegaly at diagnosis | Yes | No | No | No | Yes | Yes | Yes | Yes |
Splenomegaly at Follow-Up | Yes | No | No | No | Yes | Yes | Yes | Yes |
Progression to Accelerated Phase | No | No | No | No | Yes | No | No | No |
Leukemic Transformation | No | No | No | Yes | No | No | No | No |
WBCs at diagnosis (x 109/L) | 4.4 | 6.2 | 18.9 | 16.6 | 5.8 | 4.6 | 6.2 | 4.5 |
Hb at diagnosis (g/dL) | 10.8 | 11 | 12.9 | 11 | 7 | 12 | 9.8 | 9.5 |
Hct at diagnosis (%) | 32,8 | 33 | 42,2 | 40 | 32.3 | 38,6 | 39,3 | 30,6 |
PLTs at diagnosis (x 103/μL) | 285 | 650 | 911 | 110 | 30 | 485 | 400 | 234 |
Karyotype | 46, XY | 46, XX | 46, XY | 46, XY | 46, XY | 46, XX | 46, XY | 46, XY |
Myeloid Panel Mutations | CALR T1 (66%) | NF1 L1543F (18%) | JAK2 V617F (81%) | JAK2 V617F (43%), ASXL1 (p.Tyr591Ter) (28%), GATA2 (p.Leu359Val), (49%) SH2B3 (p.Arg392Gln) (21%). | JAK2 V617F (34%), SH2B3 R308PX19 (11%), TP53 P190T (24%), NRAS G13D (19%) | CALR T2 (51%), ASXL1 E635fs*15 (26%), ASXL1 G646WX12 (26%) | CALR T1 (22%), ASXL1 P808Lfs*10 (7%), IDH1 R132H (3%), CBL P417R (7%), NRAS G12D (3%) | JAK2 V617F (78%) |
Δ3’HMGA2 coordinate start | 65964377 | 65964148 | 65964732 | 65964116 | 65964244 | 65964404 | 65964226 | 65964074 |
Δ3’HMGA2 coordinate end | 65965852 | 65965814 | 65967417 | 65966249 | 65967619 | 65966283 | 65965217 | 65965055 |
Δ3’HMGA2 length (bp) | 1475 | 1666 | 2685 | 2133 | 3375 | 1879 | 991 | 981 |
HMGA2 amplicon reads | 263093 | 139627 | 241111 | 21649 | 15774 | 24968 | 14590 | 11917 |
Δ3’HMGA2 Supp Reads | 21019 | 29781 | 312 | 127 | 62 | 17593 | 4179 | 55 |
Δ3’HMGA2 AR (%) | 7.99 | 21.33 | 0.13 | 0.59 | 0.39 | 70.46 | 28.64 | 0.46 |
