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Table 2 Clinical characteristics of EZH2-mutated patients

From: Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS 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
  1. 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
  2. *FISH analysis
  3. Bone marrow blasts