Table 1

Molecular features of the 30 studied CMML

No

Diagnosis

Karyotype

Array-CGH

H, K, NRAS

NF1

PTPN11 E3, 13

RUNX1

SOS1 E7-11

USP16-RUNX1 rearrangement


1

CMML 2

46, XY [20]

3q22-24 losses (EPHB1, NEK11, MRAS...)

no

nd

p.Asp61Tyr

p.Pro425Leu

p.Leu569Val

nd

5

CMML 2

47, XX, +8 [20]

Tri 8

no

nd

p.Ala72Thr

Splicing defect

no

nd

6

CMML 2

46, XY [20]

3p23 loss (GLB1, CRTAP)

no

nd

no

p.Arg166X

no

nd

7

CMML 1

46, XX [20]

normal-like

no

nd

no

no

no

nd

12

CMML 1

47, XX, +8 [20]

Tri 8, 7q11 loss (CALN1)

N- p.Gly12Asp

nd

no

p.Tyr377LeufsX223

no

nd

13

CMML 1

46, XY [20]

normal-like

no

nd

no

no

no

nd

15

CMML 1

46, XY [20]

normal-like

no

nd

no

p.Gly50GlnfsX4

no

nd

51

CMML 1

46, XY [20]

normal-like

no

nd

no

no

no

no

72

CMML1

46, XY [20]

7p21 gain (AHR)

no

nd

no

no

no

no

78

CMML 1

45, X, -X?c [20]

X loss

N- p.Gly12Asp

nd

no

no

no

no

79

CMML 1

46, XY [20]

normal-like

K- p.Gly12Ser

p. =

no

no

no

no


2

CMML 1

46, XY [20]

normal-like

nd

nd

no

no

no

nd

95

CMML 1

46, XX [20]

normal-like

no

nd

no

no

no

no

75

CMML 1

46, XY [20]

normal-like

no

nd

no

no

no

no

89

CMML 1

46, XY [20]

normal-like

K- p.Ala146Val

nd

no

no

no

no


3

CMML 1

46, XY, del(20)(q11q13) [20]

nd

no

nd

no

p.Arg166X

no

nd

38

CMML 1

46, XY [20]

normal-like

no

nd

no

no

no

no

52

CMML 2

46, XX, inv(11)(p15q22) [20]

normal-like

no

nd

no

no

no

no

90

CMML 2

46, XX, t(1;3)(p36;q21) [20]

normal-like

no

nd

no

p. =

no

no

8

CMML 2

46, XY [20]

normal-like

no

nd

no

no

no

nd

25

CMML 1

46, XY [20]

normal-like

no

nd

no

p.Leu56Ser

no

nd

63

CMML 2

46, XY [20]

normal-like

no

nd

no

no

no

no

74

CMML 1

46, XY, del(20)(q11q13) [20]

20q11-q13 loss, 13q14 loss (RB1)

no

nd

no

no

no

no

87

CMML 1

46, XY [20]

normal-like

no

nd

no

p.Arg320X

no

no


34

AT-CMML

46, XX [20]

normal-like

no

nd

p.Gln510His

no

no

USP16_E1-RUNX1_E7

37

AT-CMML

46, XY, del(20)(q11q13) [13]/46, idem, -7, +mar [5]/46, idem, del(12)(p11-12p13) [5]

20q11-q13 loss, 7p loss, 7q11-q21 loss, 7q31-qter loss, 7q21 gain (CDK6)

no

nd

no

p.Arg166X

nd

No

80

AT-CMML

46, XY, del(9)(q21q34) [19]/46, XY [20]

9q21.11-q22.33 loss, 17q11 loss (NF1)

nd

no

no

no

no

No

88

AT-CMML

47, XY, +8 [11]/46, XY [9]

Tri 8, 21q21 losses (RUNX1)

no

nd

no

no

no

USP16_E1-RUNX1_E5

96

AT-CMML

46, XY, del(20)(q11q13), +mar [18]

20q11-q13 loss

no

nd

nd

no

no

no

106

AT-CMML

46, XY [20]

7 loss, 8q24 loss (MYC)

no

nd

nd

no

no

no


CMMLs are classified by a double line as in Additional file 1.

CMML: chronic myelomonocytic leukemia.

AT-CMML: acute transformation of CMML in acute myeloid leukemia (all M4 FAB type).

Samples 3 and 37 are from the same patient.

In bold: myeloproliferative CMML.

nd: not done.

E: exon.

Tri: trisomy.

Gelsi-Boyer et al. BMC Cancer 2008 8:299   doi:10.1186/1471-2407-8-299

Open Data