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 |