Table 2.
Clinical characteristics of EZH2-mutated patients
| Patient # | Sex | Age (years) | Disease subtype | Karyotype | Del(7q) or -7 | % monosomy 7 cells (FISH) | WBC (× 109/L) | PB blasts (%) | Treatment |
|---|---|---|---|---|---|---|---|---|---|
| AML patients | |||||||||
| 14 | m | 29 | AML with recurrent genetic abnormalities | 46,XY [22] | No | 0 | 16.4 | 64 | Induction chemo, HSCT |
| 35 | f | 84 | AML-MRC (history of MDS) | 48,XX,der(1)t(1;5)(p36;?), + der(1)t(1;5)(p36;?),der(5)t(5;11)(p15;q23)t(1;5)(p36;q15),der(11)t(5;11)(?;q23),del(12)(p12p13), + 19 [5]/49,idem, + 8 [9]/46,XX [6] | No | 0 | 2.66 | 2 | LDAC, tranylcypromine, ATRA |
| 50 | m | 71 | AML, NOS | 46,XY [21] | No | 0 | 101.73 | 26 | Induction chemo, HSCT |
| 5 | f | 74 | AML with recurrent genetic abnormalities | 46,XX [20] | No | 0 | 31.23 | 49 | Induction chemo, HSCT |
| 21 | m | 71 | t-AML | 46,XY,del(12)(p12p13) [30] | No | 0 | 4.22 | 54 | DAC |
| 27 | m | 68 | AML-MRC | 45,XY,inv(3)(q21.3q26.2),-7 [20] | Yes | 40 | 2.01 | 5 | DAC, HSCT |
| 59 | m | 75 | AML, NOS (history of MPN) | 47,XY, + 8 [2] | No | 0 | 3.6 | 5† | DAC |
| 60 | m | 61 | AML-MRC (history of MDS) | 46,XY [20] | No | 0 | 9.5 | 24† | DAC, ATRA |
| MDS/MPN patients | |||||||||
| 51 | m | 81 | MDS-MLD | 45,XY,-7,der(17)t(1;17)(p36;p12) [6]/46,XY [14] | Yes | 54 | 1.61 | 0 | AZA |
| 49 | f | 42 | MDS-MLD | 45,XX,-7 [9]/46,XX [13] | Yes | 16 | 2.0 | 3 | Upfront HSCT |
| 25 | m | 82 | MDS/MPN (progression to AML) | 46,XY,del(17p13),i(17q11) (40%)* | No | 0 | 39.72 | 10 | HU, AZA |
| 22 | f | 61 | CNL | 46,XX | No | 0 | 71.14 | 0 | HU, HSCT |
| 33 | m | 84 | CMML-2 | 47,XY, + 8 [19]/46,XY [1] | No | 0 | 18.4 | 2 | DAC |
| 40 | f | 69 | MDS/MPN | 47,XX, + 8 [11] | No | 0 | 126.45 | 6 | HU, HSCT |
| 10 | m | 68 | MDS-EB-2 | 47,XY, + 8 [12]/46,XY [8] | No | 0 | 1.67 | 0 | AZA, HSCT |
AML acute myeloid leukemia, ATRA all-trans retinoic acid, AZA azacitidine, CMML chronic myelomonocytic leukemia, CNL chronic neutrophilic leukemia, DAC decitabine, FISH fluorescence in situ hybridization, HSCT hematopoietic stem cell transplantation, HU hydroxyurea, LDAC low dose cytarabine, MDS-EB myelodysplastic syndrome with excess blasts, MDS-MLD MDS with multilineage dysplasia, MPN myeloproliferative neoplasm, MRC myelodysplasia-related changes, NOS not otherwise specified, PB peripheral blood, t-AML therapy-related AML, WBC white blood cells
*FISH analysis
†Bone marrow blasts