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.