Prevalence of RUNX1 gene alterations in de novo adult acute myeloid leukemia

Table 1 Clinical features of the assessed patients with acute myeloid leukemia

Parameter	Frequency	Percent	Median (IQR)
Sex
Male	47	61
Female	30	39
Age in years			42 (18-82)
< 50	52	67.5
≥ 50	25	32.5
TLC as × 109/L			20 (1-377)
Hb in g/dL			8.2 ± 2.39
Platelets as × 109/L			32 (1-658)
PB blast as %			53 (0-63)
BM blast as %			69 (20-97)
MCN			45.8 ± 2.62
< 46	10	14.5
46	47	68.1
> 46	12	17.4
BM cellularity
Hypocellular	3	3.9
Normocellular	11	14.3
Hypercellular	63	81.8
Hepatomegaly
Absent	57	74
Present	20	26
Splenomegaly
Absent	60	77.9
Present	17	22.1
Lymphadenopathy
Absent	52	67.5
Present	25	32.5
FAB classification
M0	4	5.2
M1	10	13
M2	38	49.4
M4	22	28.6
M5a	2	2.6
M7	1	1.3
t (8; 21)
Absent	70	90.9
Present	7	9.1
inv16
Absent	71	92.2
Present	6	7.8
t (9; 22)
Absent	75	97.4
Present	2	2.6
Genetic risk
High	17	22.1
Intermediate	42	54.5
Low	18	23.4
FLT3-ITD
Wild	69	89.6
Mutant	8	10.4
FLT3-TKD
Wild	75	97.4
Mutant	2	2.6
C-KIT
Wild	76	98.7
Mutant	1	1.3
NPM
Wild	63	81.8
Mutant	14	18.2
BM blast on day 15			0.03 (0-1)
BM cellularity on day 15
Hypocellular	41	68.3
Normocellular	11	18.3
Hypercellular	8	13.3
BM blast on day 28			0.03 (0-1)
BM cellularity on day 28
Hypocellular	6	14.6
Normocellular	21	51.2
Hypercellular	14	34.1
CR
Negative	37	48.1
Positive	40	51.9
Delayed CR
Negative	70	90.9
Positive	7	9.1
Resistance
Negative	67	87
Positive	10	13
Relapse
Negative	63	81.8
Positive	14	18.2
Death
Negative	20	26
Positive	57	74
Early death
Negative	41	53.2
Positive	36	46.8

BM: Bone marrow; CR: Complete remission; FAB: French-American-British; Hb: Hemoglobin; IQR: Interquartile range; MCN: Modal chromosomal number; PB: Peripheral blood; TLC: Total leucocytic count.

Table 2 Association between all runt-related transcription factor-1 abnormalities and runt-related transcription factor-1 translocations with the clinicopathological features of the patients with acute myeloid leukemia

Parameter		RUNX1 abnormalities		P value	RUNX1 translocation		P value
		Negative	Positive		Negative	Positive
Age in years, median (IQR)		43.0 (20-69)	35.0 (18-78)	0.472	42.5 (20-78)	30.5 (18-70)	0.156
TLC as × 109/L, median (IQR)		44.7 (1-377)	20.8 (2-191)	0.620	34.8 (1-377)	20.1 (2-107)	0.187
Hb in g/dL, mean ± SD		8.38 ± 2.30	7.93 ± 2.50	0.421	8.15 ± 2.20	8.37 ± 3.10	0.748
Platelets as × 109/L, median (IQR)		24 (12-266)	30 (13-185)	0.549	26 (12-226)	27 (13-185)	0.390
PB blast as %, median (IQR)		60.0 (0-99)	54.0 (5-92)	0.426	53.0 (0-99)	68.5 (33-92)	0.950
BM blast as %, median (IQR)		66 (30-97)	62 (20-90)	0.598	66 (20-97)	70 (36-90)	0.711
MCN, mean ± SD		45.90 ± 0.67	45.80 ± 4.10	0.852	46.00 ± 2.50	45.30 ± 3.10	0.362
Sex, n (%)	Male	28 (62.2)	19 (59.4)	0.817	40 (65.6)	7 (43.8)	0.151
	Female	17 (37.8)	13 (40.6)		21 (34.4)	9 (56.3)
BM cellularity, n (%)	Hypocellular	1 (2.2	2 (6.3)	0.042	3 (4.9)	0 (0.0)	0.009
	Normocellular	3 (6.7)	8 (25.0)		5 (8.2)	6 (37.5)
	Hypercellular	41 (91.1)	22 (68.8)		53 (86.9)	10 (62.5)
Hepatomegaly, n (%)	Absent	35 (77.8)	22 (68.8)	0.434	45 (73.8)	12 (75.0)	0.920
	Present	10 (22.2)	10 (31.3)		16 (26.2)	4 (25.0)
Splenomegaly, n (%)	Absent	37 (82.2)	23 (71.9)	0.404	47 (77.0)	13 (81.3)	0.718
	Present	8 (17.8)	9 (28.1)		14 (23.0)	3 (18.8)
Lymphadenopathy, n (%)	Absent	31 (68.9)	21 (65.6)	0.808	41 (67.2)	11 (68.8)	0.907
	Present	14 (31.1)	11 (34.4)		20 (32.8)	5 (31.3)
MPO, n (%)	Negative	3 (6.7)	5 (15.6)	0.265	4 (6.6)	4 (25.0)	0.031
	Positive	42 (93.3)	27 (84.4)		57 (93.4)	12 (75.0)
CD34, n (%)	Negative	26 (57.8)	16 (50.0)	0.643	35 (57.4)	7 (43.8)	0.330
	Positive	19 (42.2)	16 (50.0)		26 (42.6)	9 (56.3)
CD64, n (%)	Negative	35 (77.8)	22 (68.8)	0.434	45 (73.8)	12 (75.0)	0.920
	Positive	10 (22.2)	10 (31.3)		16 (26.2)	4 (25.0)
CD14, n (%)	Negative	39 (86.7)	29 (90.6)	0.728	53 (86.9)	15 (93.8)	0.447
	Positive	6 (13.3)	3 (9.4)		8 (13.1)	1 (6.3)
FAB, n (%)	M0	1 (2.2)	3 (9.4)	0.241	1 (1.6)	3 (18.8)	0.019
	M1	5 (11.1)	5 (15.6)		9 (14.8)	1 (6.3)
	M2	27 (60.0)	11 (34.4)		31 (50.8)	7 (43.8)
	M4	11 (24.4)	11 (34.4)		19 (31.1)	3 (18.8)
	M5	1 (2.2)	1 (3.1)		1 (1.6)	1 (6.3)
	M7	0 (0.0)	1 (3.1)		0 (0.0)	1 (6.3)
Complex, n (%)	Negative	40 (100.0)	20 (69.0)	< 0.001	50 (94.3)	10 (62.5)	0.001
	Positive	0 (0.0)	9 (31.0)		3 (5.7)	6 (37.5)
t (8; 21), n (%)	Negative	45 (100.0)	25 (78.1)	0.001	61 (100.0)	9 (56.3)	< 0.001
	Positive	0 (0.0)	7 (21.9)		0 (0.0)	7 (43.8)
inv16, n (%)	Negative	41 (91.1)	30 (93.8)	0.670	55 (90.2)	16 (100.0)	0.191
	Positive	4 (8.9)	2 (6.3)		6 (9.8)	0 (0.0)
t (9; 22), n (%)	Negative	44 (97.8)	31 (96.9)	0.806	59 (96.7)	16 (100.0)	0.463
	Positive	1 (2.2)	1 (3.1)		2 (3.3)	0 (0.0)
Cytogenetic risk, n (%)	High	8 (17.8)	9 (28.1)	0.310	12 (19.7)	5 (31.3)	0.542
	Intermediate	24 (53.3)	18 (56.3)		35 (57.4)	7 (43.8)
	Low	13 (28.9)	5 (15.6)		14 (23.0)	4 (25.0)
FLT3-ITD, n (%)	Wildtype	38 (84.4)	31 (96.9)	0.078	53 (86.9)	16 (100.0)	0.126
	Mutant	7 (15.6)	1 (3.1)		8 (13.1)	0 (0.0)
C-KIT, n (%)	Wildtype	45 (100.0)	31 (96.9)	0.416	61 (100.0)	15 (93.8)	0.208
	Mutant	0 (0.0)	1 (3.1)		0 (0.0)	1 (6.3)
NPM, n (%)	Wildtype	33 (73.3)	30 (93.8)	0.034	47 (77.0)	16 (100.0)	0.034
	Mutant	12 (26.7)	2 (6.3)		14 (23.0)	0 (0.0)
BM blast on day 28, n (%)		0.04 (0-1)	0.02 (0-1)	0.082	0.03 (0-1)	0.04 (0-1)	0.789
BM cellularity on day 28, n (%)	Hypocellular	4 (19.0)	2 (10.0)	0.507	5 (16.7)	1 (6.3)	0.831
	Normocellular	9 (42.9)	12 (60.0)		15 (50.0)	6 (54.5)
	Hypercellular	8 (38.1)	6 (30.0)		10 (33.3)	4 (36.4)
CR, n (%)	Negative	23 (51.1)	14 (43.8)	0.644	30 (49.2)	7 (43.8)	0.699
	Positive	22 (48.9)	18 (56.3)		31 (50.8)	9 (56.3)
Delayed CR, n (%)	Negative	43 (95.6)	27 (84.4)	0.093	57 (93.4)	13 (81.3)	0.131
	Positive	2 (4.4)	5 (15.6)		4 (6.6)	3 (18.8)
Relapse, n (%)	Negative	40 (88.9)	23 (71.9)	0.075	52 (85.2)	11 (68.8)	0.128
	Positive	5 (11.1)	9 (28.1)		9 (14.8)	5 (31.3)
Death, n (%)	Negative	9 (20.0)	11 (34.4)	0.192	15 (24.6)	5 (31.3)	0.589
	Positive	36 (80.0)	21 (65.6)		46 (75.4)	11 (68.8)
Early death, n (%)	Negative	21 (46.7)	20 (62.5)	0.247	30 (49.2)	11 (68.8)	0.163
	Positive	24 (53.3)	12 (37.5)		31 (50.8)	5 (31.3)

BM: Bone marrow; CR: Complete remission; FAB: French-American-British; Hb: Hemoglobin; IQR: Interquartile range; PB: Peripheral blood; MCN: Modal chromosomal number; MPO: Myeloperoxidase; RUNX1: Runt-related transcription factor-1; SD: Standard deviation; TLC: Total leucocytic count.

Table 3 Association between runt-related transcription factor-1 amplifications and runt-related transcription factor-1 deletion with clinicopathological features of acute myeloid leukemia patients

Parameter		RUNX1 amplification		P value	RUNX1 deletion		P value
		Negative	Positive		Negative	Positive
Age in years, median (IQR)		42.0 (18-70)	36.0 (20-78)	0.694	41.5 (18-78)	21.5 (21-22)	0.175
TLC as × 109/L, median (IQR)		44.7 (1-377)	19.2 (2-91)	0.873	29.1 (1-377)	105.3 (19-191)	0.630
Hb in g/dL, mean ± SD		8.33 ± 2.50	7.70 ± 1.70	0.359	8.20 ± 2.40	8.10 ± 1.50	0.950
Platelets as × 109/L, median (IQR)		24 (12-226)	45 (21-185)	0.484	26 (12-226)	24 (18-30)	0.663
PB blast (%), median (IQR)		60 (0-99)	38 (5-72)	0.515	59 (0-99)	47 (40-54)	0.232
BM blast (%), median (IQR)		66 (30-97)	60 (20-90)	0.35	65.5 (20-97)	74.5 (71-78)	0.613
MCN, mean ± SD		45.4 ± 2.5	47.5 ± 2.4	0.007	46 ± 2.1	42.5 ± 7	0.008
Sex, n (%)	Male	34 (56.7)	13 (76.5)	0.168	45 (61.6)	2 (50.0)	0.641
	Female	26 (43.3)	4 (23.5)		28 (38.4)	2 (50.0)
BM cellularity, n (%)	Hypocellular	1 (1.7)	2 (11.8)	0.137	3 (4.1)	0 (0.0)	0.626
	Normocellular	8 (13.3)	3 (17.6)		11 (15.1)	0 (0.0)
	Hypercellular	51 (85.0)	12 (70.6)		59 (80.8)	4 (100.0)
Hepatomegaly, n (%)	Absent	47 (78.3)	10 (58.8)	0.125	53 (72.6)	4 (100.0)	0.568
	Present	13 (21.7)	7 (41.2)		20 (27.4)	0 (0.0)
Splenomegaly, n (%)	Absent	51 (85.0)	9 (52.9)	0.009	56 (76.7)	4 (100.0)	0.57
	Present	9 (15.0)	8 (47.1)		17 (23.3)	0 (0.0)
Lymphadenopathy, n (%)	Absent	44 (73.3)	8 (47.1)	0.076	49 (67.1)	3 (75.0)	0.743
	Present	16 (26.7)	9 (52.9)		24 (32.9)	1 (25.0)
MPO, n (%)	Negative	6 (10.0)	2 (11.8)	0.833	8 (11.0)	0 (0.0)	1
	Positive	54 (90.0)	15 (88.2)		65 (89.0)	4 (100.0)
CD34, n (%)	Negative	34 (56.7)	8 (47.1)	0.584	38 (52.1)	4 (100.0)	0.121
	Positive	26 (43.3)	9 (52.9)		35 (47.9)	0 (0.0)
CD64, n (%)	Negative	45 (75.0)	12 (70.6)	0.758	56 (76.7)	1 (25.0)	0.052
	Positive	15 (25.0)	5 (29.4)		17 (23.3)	3 (75.0)
CD14, n (%)	Negative	51 (85.0)	17 (100.0)	0.194	66 (90.4)	2 (50.0)	0.065
	Positive	9 (15.0)	0 (0)		7 (9.6)	2 (50.0)
FAB, n (%)	M0	2 (3.3)	2 (11.8)	0.368	4 (5.5)	0 (0.0)	0.014
	M1	6 (10.0)	4 (23.5)		10 (13.7)	0 (0.0)
	M2	32 (53.3)	6 (35.3)		38 (52.1)	0 (0.0)
	M4	17 (28.3)	5 (29.4)		19 (26.0)	3 (75.0)
	M5	2 (3.3)	0 (0)		1 (1.4)	1 (25.0)
	M7	1 (1.7)	0 (0)		1 (1.4)	0 (0.0)
Complex, n (%)	Negative	52 (94.5)	8 (47.1)	0.001	57 (87.7)	3 (75.0)	0.436
	Positive	3 (5.5)	6 (35.3)		8 (12.3)	1 (25.0)
t (8; 21), n (%)	Negative	54 (90.0)	16 (94.1)	0.602	66 (90.4)	4 (100.0)	0.516
	Positive	6 (10.0)	1 (5.9)		7 (9.6)	0 (0.0)
inv16, n (%)	Negative	55 (91.7)	16 (94.1)	0.739	68 (93.2)	3 (75.0)	0.282
	Positive	5 (8.3)	1 (5.9)		5 (6.8)	1 (25.0)
t (9; 22), n (%)	Negative	59 (98.3)	16 (94.1)	0.395	71 (97.3)	4 (100.0)	0.737
	Positive	1 (1.7)	1 (5.9)		2 (2.7)	0 (0.0)
Cytogenetic risk, n (%)	High	12 (20.0)	5 (29.4)	0.15	15 (20.5)	2 (50.0)	0.288
	Intermediate	31 (51.7)	11 (64.7)		40 (54.8)	2 (50.0)
	Low	17 (28.3)	1 (5.9)		18 (24.7)	0 (0.0)
FLT3-ITD, n (%)	Wildtype	52 (86.7)	17 (100.0)	0.188	66 (90.4)	3 (75.0)	0.361
	Mutant	8 (13.3)	0 (0)		7 (9.6)	1 (25.0)
C-KIT, n (%)	Wildtype	59 (98.3)	17 (100.0)	0.592	72 (98.6)	4 (100.0)	0.814
	Mutant	1 (1.7)	0 (0)		1 (1.4)	0 (0.0)
NPM, n (%)	Wildtype	47 (78.3)	16 (94.1)	0.173	60 (82.2)	3 (75.0)	0.717
	Mutant	13 (21.7)	1 (5.9)		13 (17.8)	1 (25.0)
BM cellularity on day 28, n (%)	Hypocellular	6 (20.0)	0 (0)	0.152	5 (12.8)	1 (25.0)	0.22
	Normocellular	13 (43.3)	8 (47.1)		21 (53.8)	0 (0.0)
	Hypercellular	11 (36.7)	3 (25.0)		13 (33.3)	1 (25.0)
CR, n (%)	Negative	29 (48.3)	8 (47.1)	0.926	36 (49.3)	1 (25.0)	0.616
	Positive	31 (51.7)	9 (52.9)		37 (50.7)	3 (75.0)
Delayed CR, n (%)	Negative	56 (93.30	14	0.177	66 (90.4)	4 (100.0)	0.516
	Positive	4 (6.7)	3 (25.0)		7 (9.6)	0 (0.0)
Relapse, n (%)	Negative	50 (83.3)	13	0.496	61 (83.6)	2 (50.0)	0.149
	Positive	10 (16.7)	4		12 (16.4)	2 (50.0)
Death, n (%)	Negative	13 (21.7)	7	0.125	19 (26.0)	1 (25.0)	0.964
	Positive	47 (78.3)	10		54 (74.0)	3 (75.0)
Early death, n (%)	Negative	30 (50.0)	11	0.41	39 (53.4)	2 (50.0)	0.894
	Positive	30 (50.0)	6		34 (46.6)	2 (50.0)

BM: Bone marrow; CR: Complete remission; FAB: French-American-British; Hb: Hemoglobin; IQR: Interquartile range; MCN: Modal chromosomal number; PB: Peripheral blood; MPO: Myeloperoxidase; RUNX1: Runt-related transcription factor-1; SD: Standard deviation; TLC: Total leucocytic count.