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 | 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 |