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Table 1 Molecular features of the 30 studied CMML

From: Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes

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
  1. CMMLs are classified by a double line as in Additional file 1.
  2. CMML: chronic myelomonocytic leukemia.
  3. AT-CMML: acute transformation of CMML in acute myeloid leukemia (all M4 FAB type).
  4. Samples 3 and 37 are from the same patient.
  5. In bold: myeloproliferative CMML.
  6. nd: not done.
  7. E: exon.
  8. Tri: trisomy.