Table 1 Comparison of clinical and genetic profiles between de novo and therapy-related cases of t(8;21) and inv(16) AML.

From: Genomic profiles and outcomes in de novo versus therapy-related core binding factor AML

 

t(8;21)

inv(16)

Clinical and hematological profile

 

dn-t(8;21)

N = 56

t-(8;21)

N = 10

p.value

dn-inv(16)

N = 55

t-inv(16)

N = 15

p.value

Age, Median (range)

48.0 (18.0, 91.0)

66.5 (20.0, 80.0)

0.111

46.0 (21.0, 84.0)

63.0 (18.0, 85.0)

0.001

Gender, n (%)

  

0.999

  

0.001

Male

31 (55.4)

5 (50.0)

 

40 (72.7)

3 (20.0)

 

Female

25 (44.6)

5 (50.0)

 

15 (27.3)

12 (80.0)

 

BM Blasts %, Median (range)

54.00 (7.00, 100.00)

46.50 (14.00, 90.00)

0.781

47.00 (3.00, 86.00)

49.50 (6.00, 89.00)

0.937

WBC, x109/L, Median (range)

8.30 (0.70, 442.0)

3.90 (1.50, 105.60)

0.113

28.49 (0.60, 481.10)

13.90 (2.30, 133.20)

0.292

Mono, x109/L, Median (range)

0.10 (0.00, 4.66)

0.06 (0.00, 1.06)

0.650

5.25 (0.00, 60.10)

4.82 (0.20, 27.58)

0.866

Neut, x109/L, Median (range)

1.11 (0.00, 11.49)

1.40 (0.30, 3.00)

0.748

0.92 (0.00, 115.50)

0.72 (0.08, 5.30)

0.720

Hb, g/L, Median (range)

85.0 (33.0, 127.0)

90.5 (73.0, 145.0)

0.201

88.5 (46.0, 177.0)

88.0 (72.0, 112.0)

0.958

EMD, n (%)

5 (8.9)

0 (0.0)

0.999

10.0 (18.2)

0 (0.0)

0.105

Cytogenetics profile

SCA, n (%)

38 (69.1)

6 (60.0)

0.715

32 (58.2)

7 (50.0)

0.764

Complex karyotype*, n (%)

0 (0)

0 (0)

 

2 (3.6)

0 (0.0)

0.999

Loss of X or Y, n (%)

24 (43.6)

3(30.0)

0.503

1 (1.8)

0

0.999

Del(7q), n (%)

2 (3.6)

0

0.999

7 (12.7)

1 (7.1)

0.999

Del(9q), n (%)

6 (10.9)

0

0.579

0

0

 

Trisomy 8, n (%)

4 (7.3)

2 (20.0)

0.228

8 (14.5)

3 (21.4)

0.683

Trisomy 9, n (%)

0

0

 

4 (7.3)

1 (7.1)

0.999

Trisomy 21, n (%)

1 (1.8)

0

0.999

3 (5.5)

1 (7.1)

0.999

Trisomy 22, n (%)

0

0

 

12 (21.8)

1 (7.1)

0.278

t(9;22), n (%)

0

0

 

3 (5.5)

0

0.999

MDS cytogenetics#, n (%)

7 (12.7)

1 (10.0)

0.999

18 (32.7)

4 (28.6)

0.999

Molecular genetics profile

Presence of gene mutations (%)

84.6

88.9

0.999

79.1

88.9

0.670

Number of genes mutated, Median (range)

2.0 (0.0, 5.0)

2.00 (0.0, 4.0)

0.903

2.0 (0.0, 4.0)

1.0 (0.0, 3.0)

0.920

MDS-related gene mutationØ,n (%)

11 (28.2)

4 (44.4)

0.432

5 (11.6)

3 (33.3)

0.130

NPM1 mutation, n (%)

0 (0.0)

0 (0.0)

NA

0 (0.0)

0 (0.0)

NA

FLT3-ITD or TKD mutation, n (%)

4 (9.1)

1 (11.1)

0.999

8 (18.6)

1 (11.1)

0.999

FLT3-ITD mutation, n (%)

2 (4.5)

0 (0.0)

0.999

5 (11.6)

0 (0.0)

0.573

KIT mutation, n (%)

16 (29.1)

3 (30.0)

0.999

19 (35.2)

2 (14.3)

0.197

Chromatin modifier genes, n (%)

BCOR, BCORL1, EZH2, KDM6A, ASXL2, ASXL1

8 (20.5)

2 (22.2)

0.999

3 (7.0)

2 (22.2)

0.202

Cohesion genes, n (%)

STAG2, SMC3, SMC1A, RAD21

8 (20.5)

1 (11.1)

0.999

1 (2.3)

0 (0.0)

0.999

DNA methylation genes, n (%)

IDH2, IDH1, TET2

9 (23.1)

3 (33.3)

0.671

3 (7.0)

0 (0.0)

0.999

Splicing mutations, n (%)

SRSF2, U2AF1, ZRSR2

1 (2.6)

2 (22.2)

0.086

1 (2.3)

0 (0.0)

0.999

RAS-pathway genes, n (%)

NRAS, KRAS

6 (15.4)

1 (11.1)

0.999

19 (44.2)

3 (33.3)

0.717

Transcription factors genes, n (%)

IKZF1, GATA2, RUNX1, ETV6, SETBP1, CEBPAdm

7 (17.9)

2 (22.2)

0.999

1 (2.3)

1 (11.1)

0.319

Tumour suppressors genes, n (%)

WT1, PHF6

1 (2.6)

0 (0.0)

0.999

8 (18.6)

1 (11.1)

0.999

Tyrosine kinase mutations, n (%)

PTPN11, JAK2, FLT3-ITD, FLT3-TKD, KRAS, NRAS, KIT, CBL

23 (53.5)

6 (66.7)

0.714

37 (77.1)

5 (55.6)

0.223

  1. *Complex karyotype: ≥3 unrelated chromosome abnormalities, including t(8;21) or inv(16), at least one monosomy and additional structural abnormality.
  2. #MDS cytogenetic as defined by ELN 2022 - Complex karyotype and/or del(5q)/t(5q)/add(5q), –7/del(7q), +8, del(12p)/t(12p)/add(12p), i(17q), -17/add(17p)/del(17p), del(20q), or idic(X)(q13).
  3. ØMDS-related gene mutation as defined by ELN 2022 - ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, and/or ZRSR2.
  4. BM bone marrow, EMD extramedullary disease, Hb hemoglobin, mono monocytes, neut neutrophils, SCA secondary cytogenetic abnormalities.
  5. Bold values identify statistical significance (p < 0.05).
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