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Table 1 Acute myeloid leukemia with IKZF1 mutation in our cohort

From: The specific distribution pattern of IKZF1 mutation in acute myeloid leukemia

No.

Gender/age

Diagnosis

PB

BM blast

IKZF1 mutation (VAF, mutational site)

Karyotype

Gene fusion

Gene mutation

Response

OS

1

M/45

AML-M0

WBC 19.1 G/L

HB 77 g/l

PLT 129 G/L

Blast 89%

90%

44.51%, Exon4:c.184_185insAA/p.Q62fs*32

46,XY,t(3;3)(q13;q27)[10]

ND

PTPN11,SF3B1

HAA, NR

Dead, 3.5 months

2

M/61

AML-M0

WBC 5.2 G/L

HB 83 g/l

PLT 917 G/L

28%

38.19%, Exon4:c.214G>T/p.E72X

42.29%, Exon8:c.1150delT/p.S384fs*31

47,XY,+3(q21)[20]

ND

BCOR,PTPN11,FLT3, SF3B1

AZA + IDA, NR

Dead, 3 months

3

M/24

AML-M2

WBC 6.6 G/L

HB 85 g/l

PLT 10 G/L

Blast 34%

57%

1.69%, Exon5:c.427C>T/p.R143W

3.49%, Exon6:c.637C>T/p.R213X

46,XY,del(8)(q22)[5]/46,XY[5]

ND

dCEBPA,MSH6,DNMT3A,WT1

IA, CR

Live, 5 months

4

M/21

MLL-M2

WBC 46.6 G/L

HB 76 g/l

PLT 23 G/L

Blast 75%

88.5%

23.04%, Exon5:c.472G>A/p.G158S

46,XY[20]

ND

CCND3,dCEBPA,GATA2

VEN + CAG, CR

Live, 4 months

5

F/52

AML-M2/ MS (r/r)

WBC 4.2 G/L

HB 98 g/l

PLT 84 G/L

35%

19.93%, Exon4:c.336delinsGCCCG/ p.L112fs*4

46,XX[20]

ND

dCEBPA,CSF3R,CTCF,WT1

GHAA, NA

Live, 0.5 months

  1. PB peripheral blood, BM bone marrow, VAF variant allele frequency, OS overall survival, M male, F female, AML acute myeloid leukemia, MLL mixed lineage leukemia, AML/MS acute myeloid leukemia with myeloid sarcoma, R/R relapsed or refractory, WBC white blood cell, HB hemoglobin, PLT platelet, ND not detected, NR no response, CR complete remission, NA not available