Table 1

Patient demographics and list of NPM1 and FLT3-ITD mutations detected

#

Age

Sex*

FAB

Prior Disease†

HRM – NPM1‡

Seq – NPM1§

HRM – FLT3-

ITD

Seq-FLT3-ITD|

1

64

M

M1

Nil

Normal

Neg

Normal

Neg

2

63

M

M6

MDS

Normal

Neg

Normal

Neg

3

36

M

M2

Nil

Normal

Neg

Normal

Neg

4

69

M

basophilic leukemia

RAEB-T

Normal

Neg

Normal

Neg

5

68

M

M2

Nil

Normal

Neg

Normal

Neg

6

81

M

M5

Nil

Aberrant

860_863dupTCTG

Aberrant

1754_1798dup

7

19

M

M2

Nil

Normal

Neg

Normal

Neg

8

68

M

M6

Nil

Normal

Neg

Normal

Neg

9

72

M

M4

CMML

Normal

Neg

Normal

Neg

10

58

F

M2

Nil

Aberrant

860_863dupTCTG

Normal

Neg

11

66

F

M4/5

MDS transformed

Aberrant

860_863dupTCTG

Normal

Neg

12

51

F

M4

Nil

Aberrant

860_863dupTCTG

Normal

Neg

13

42

F

M2

MDS/pelvic chloroma

Normal

Neg

Normal

Neg

14

53

M

M4

Nil

Aberrant

860_863dupTCTG

Normal

Neg

15

59

F

M1

Nil

Aberrant

860_863dupTCTG

Aberrant

1811_1837dup 1838_1867ins

16

69

M

M1

Nil

Normal

Neg

Normal

Neg

17

52

M

M1

MDS

Normal

Neg

Normal

Neg

18

74

M

M1

Nil

Normal

Neg

Normal

Neg

19

66

M

M0

ca prostate

Aberrant

860_863dupTCTG

Aberrant

1715A>G

20

52

M

M1

MDS

Normal

Neg

Normal

Neg

21

75

M

M1

MDS

Normal

Neg

Normal

Neg

22

56

M

M0

NHL on TX

Normal

Neg

Normal

Neg

23

18

F

M1

Nil

Normal

Neg

Normal

Neg

24

73

M

M4

Nil

Normal

Neg

Normal

Neg

25

56

F

M1

therapy related

Normal

Neg

Normal

Neg

26

53

F

M4

Nil

Aberrant

860_863dupTCTG

Normal

Neg

27

64

M

M0

MDS

Normal

Neg

Normal

Neg

28

63

F

M5a

Nil

Aberrant

861_864insCTGC

Normal

Neg

29

71

F

M5b

MDS transformed

Aberrant

860_863dupTCTG

Aberrant

1754_1789dup

30

89

F

M6

Nil

Normal

Neg

Normal

Neg

31

28

F

M4

Nil

Normal

Neg

Normal

Neg

32

69

F

basophilic leukemia

Nil

Normal

Neg

Normal

Neg

33

36

F

M5b

Nil

Normal

Neg

Aberrant

1783_1812dup

34

54

M

M1

Nil

Normal

Neg

Normal

Neg

35

52

M

M1

Nil

Normal

Neg

Normal

Neg

36

82

M

M4

Nil

Normal

Neg

Aberrant

1786G>C 1787_1818dup

37

68

M

M5b

CMML

Normal

Neg

Normal

Neg

38

61

F

M4

Nil

Aberrant

860_863dupTCTG

Normal

Neg

39

49

M

M4

Nil

Normal

Neg

Aberrant

ins ? bp ¶|

40

83

F

M1

Nil

Aberrant

860_863dupTCTG

Normal

Neg

41

72

F

M4

CMML

Normal

Neg

Normal

Neg

42

57

M

M4

Nil

Normal

Neg

Normal

Neg

43

42

M

M1

Nil

Normal

Neg

Aberrant

1741_1831dup 1832_1842ins

44

49

M

M6

Nil

Normal

Neg

Normal

Neg

† MDS = myelodysplastic syndrome; RAEB-T = refractory anemia with excess of blasts in transformation; CMML = chronic myelomonocytic leukemia; Ca prostate = prostate cancer; NHL = Non-Hodgkin lymphoma.

‡Normal = normal melt profile, Aberrant = abnormal melt profile.

§Neg = no mutation detected in the sequence; numbering according to NPM1 reference sequence NM_002520.5

| Numbering according to FLT3 reference sequence NM_004119.2 (5'UTR not included)

¶ The size of the internal tandem duplication could not be determined due to the low levels of mutant peaks in the sequence,

Tan et al. Journal of Hematology & Oncology 2008 1:10   doi:10.1186/1756-8722-1-10