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Table 2 Characteristics of 35 MN cases

From: The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing

No

Age/sex

Diagnosis type

WBC

(× 109 /L)

HB

(g/L)

PLT

(× 109 /L)

BM blasts

(%)

Dysplasia

(%)

RS

Cytogenetics

Mutations

VAF

(%)

1

76/F

MDS-U

1.2

71

15

 < 5

Y

N

 + 8

DNMT3A, ASXL1, U2AF1, STAG2, BCOR, RUNX1

33.1

2

66/F

MDS-U

2.1

32

81

 < 5

N

N

-7

U2AF1

28.93

3

13/M

MDS-U

1.64

53

11

 < 5

N

N

Normal

TP53

43.22

4

81/M

MDS-SLD

5.3

37

119

 < 5

Y

N

-Y

N

 

5

69/M

MDS-RS

2.45

54

210

 < 5

N

Y

Normal

SF3B1

36.45

6

87/M

MDS-RS

3.64

50

349

 < 5

N

Y

Normal

SF3B1, TET2

44.22

7

73/M

MDS-MLD

2.4

69

4

 < 5

Y

N

 

TET2, TP53

7.46

8

62/M

MDS-MLD

1.06

66

12

 < 5

Y

N

Normal

RUNX1

37.31

9

59/F

MDS-MLD

3.2

44

4

 < 5

Y

N

Normal

N

 

10

51/M

MDS-MLD

2.39

54

262

 < 5

Y

N

5q-

U2AF1

20.3

11

85/M

MDS-MLD

2.6

84

30

 < 5

Y

N

20q-

N

 

12

80/M

MDS-MLD

6.77

81

30

 < 5

Y

N

 + 8

TP53, ASXL1, U2AF1

87.24

13

60/M

MDS-MLD

5.82

68

18

 < 5

Y

N

Normal

ASXL1, RUNX1, EZH2

44.6

14

71/M

MDS-MLD

7.59

84

7

 < 5

Y

N

 

TET2, EZH2, ASXL1, RUNX1

71.3

15

77/F

MDS-EB-2

2.89

106

68

16

N

N

Normal

ASXL1, EZH2

10.83

16

75/M

MDS-EB-2

1.52

48

38

18

N

N

 

ASXL1, U2AF1

42.15

17

69/F

MDS-EB-2

0.6

48

21

19

N

N

Normal

IDH2, SRSF2, STAG2

57.66

18

70/F

MDS-EB-2

2.34

52

4

18.5

N

N

5q-, 7q-, + 8

TP53, EZH2

68.26

19

68/M

MDS-EB-2

1.97

87

182

11

Y

N

Normal

SRSF2, ASXL1, STAG2

61.51

20

63/F

MDS-EB-2

3.25

84

54

14.5

N

N

Normal

STAG2, TET2

91.91

21

82/M

MDS-EB-1

0.85

73

56

5.5

N

N

Normal

DNMT3A, U2AF1, RUNX1, BCOR

61.72

22

73/M

MDS-EB-1

2.89

144

109

8

N

N

-Y

N

 

23

61/F

MDS-EB-1

2.46

87

12

9

N

N

Normal

ASXL1, U2AF1

39.33

24

68/F

MDS-EB-1

2.66

67

81

7.5

N

N

Normal

N

 

25

65/F

MDS-EB-1

1.37

62

11

7.5

N

N

 

ASXL1, STAG2, RUNX1

46.17

26

55/F

MDS-EB-1

1.55

78

140

8.5

N

N

-7

N

 

27

77/M

MDS-EB-1

2.61

43

143

7

N

N

Normal

DNMT3A, RUNX1, SF3B1

39.25

28

51/M

MDS-EB-1

1.1

60

73

6

Y

N

Normal

STAG2, U2AF1

45.6

29

64/M

MDS-EB-1

1.52

62

12

8

N

N

Normal

U2AF1

30.6

30

67/M

MDS-EB-1

1.82

48

130

7.5

Y

N

-Y

N

 

31

66/F

MDS/MPN

3.21

78

760

8

N

N

5q-, 11q-

N

 

32

56/M

MDS/MPN

6.97

68

79

 < 5

Y

N

Normal

DNMT3A, ASXL1

53.19

33

64/F

MDS/MPN

1.87

71

538

17.5

N

N

5q-, 7q-, 20q-

TP53, TET2

56.76

34

73/M

MDS/MPN

5.82

63

49

 < 5

N

N

 

TET2

41.67

35

83/M

MDS/MPN

3.06

97

22

 < 5

Y

N

 

SF3B1

10.7

  1. WBC White blood cells, Hb haemoglobin, PLT platelet, RS ringed sideroblasts, VAF Variant allele frequencies, BM bone marrow, N None
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Molecular Cytogenetics

ISSN: 1755-8166