Clinical and molecular characteristics of the 28 patients studied at the clonal level
| UPN . | Age . | Sex (M/F) . | WHO category . | Karyotype . | Monocytes (g/L) . | No. of mutations . | First mutation . | Second mutation . | Third mutation . | Fourth mutation . | Architecture . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 428 | 74 | F | CMML-1 | Normal | 5.1 | 1 | TET2 (M993VfsX15) | - | |||
| 462 | 83 | M | CMML-2 | Normal | 5.0 | 2 | ASXL1 (E635RfsX15) | RUNX1(G60PfsX52) | Linear | ||
| 495 | 53 | M | CMML-1 | Normal | 1.9 | 2 | CBL (S407P) | SRSF2 (P95H) | Branched (LOH CBL) | ||
| 497 | 59 | M | CMML-1 | Normal | 2.1 | 1 | TET2 (L757TfsX12) | - | |||
| 498 | 84 | M | CMML-1 | Trisomy 13 | 2.2 | 3 | ASXL1 (G646WfsX12)* | ZRSR2* (splice n+1 ex9) | SRSF2 (P95L) | Branched (LOH ZRSR2) | |
| 500 | 86 | F | CMML-2 | Normal | 3.4 | 1 | TET2 (P1619LfsX4) | - | |||
| 501 | 74 | F | CMML-1 | Normal | 1.1 | 1 | TET2 (Q803×) | - | |||
| 507 | 70 | M | CMML-2 | Normal | 4.9 | 3 | SRSF2 (P95H) | CBL (W408R) | TET2 (S716×) | Branched (LOH CBL&TET2) | |
| 514 | 80 | F | CMML-1 | Normal | 1.8 | 1 | KRAS (G12S) | - | |||
| 516 | 76 | M | CMML-1 | Normal | 7.4 | 2 | TET2 (K450×) | NRAS (G12D) | Linear | ||
| 518 | 51 | M | CMML-1 | Normal | 1.6 | 1 | KRAS (G12C) | - | |||
| 524 | 90 | M | CMML-1 | Normal | 38.9 | 3 | TET2 (Q1702×) | SRSF2 (P95L) | TET2(S1525YfsX53)† | KRAS(A18D) | Linear |
| 531 | 81 | F | CMML-1 | Normal | 3.4 | 3 | TET2 (Q810×)* | SRSF2 (P95L)* | JAK2 (V617F) | Linear | |
| 536 | 79 | F | CMML-1 | Normal | 1.4 | 2 | CBL (R420L) | TET2 (S1630×) | Branched (LOH CBL) | ||
| 537 | 57 | M | CMML-1 | Normal | 3.2 | 2 | TET2 (E852×) | SRSF2 (P95H) | Linear | ||
| 550 | 85 | M | CMML-1 | Normal | 2.7 | 3 | TET2 (D1242TfsX11) | SRSF2 (P95H) | RUNX1(Y376LfsX197) | Branched (LOH TET2) | |
| 586 | 61 | F | CMML-1 | ND | 10.3 | 2 | ASXL1 (G646WfsX12) | TET2 (N275IfsX18) | Linear | ||
| 632 | 64 | M | CMML-2 | Normal | 10.0 | 3 | TET2 (N1156I) | SRSF2 (P95H) | NRAS (A59G) | Linear | |
| 638 | 80 | M | CMML-1 | Normal | 2.6 | 4 | SF3B1 (D586H) | CBL (C404Y) | SRSF2 (P95R) | ASXL1(G642×) | Branched (LOH CBL & SF3B1) |
| 644 | 82 | F | CMML-1 | Normal | 1.1 | 4 | ASXL1 (G646WfsX12)* | SRSF2(P95H)* | TET2 (S1190YfsX3) | TET2(R1214Q) | Linear |
| 654 | 70 | F | CMML-1 | Trisomy 8 | 2.3 | 3 | ASXL1 (G646WfsX12) | SRSF2(P95L) | JAK2 (V617F) | Linear | |
| 658 | 67 | M | CMML-2 | Monosomy 7 | 2.62 | 1 | ASXL1 (G646WfsX12) | - | |||
| 662 | 89 | M | CMML-1 | ND | 3.37 | 1 | TET2 (V1454SfsX4) | - | |||
| 731 | 78 | M | CMML-1 | ND | 11.0 | 2 | SRSF2 (P95L) | JAK2(V617F) | Branched (LOH JAK2) | ||
| 736 | 73 | M | CMML-1 | Normal | 5.1 | 1 | KRAS (T58I) | - | |||
| 743 | 82 | F | CMML-1 | Normal | 2.8 | 2 | TET2 (Q323×) | TET2(Q796TfsX6) | Linear | ||
| 752 | 76 | M | CMML-2 | del5q + tri 8 | 17.3 | 2 | NRAS (G12D)‡ | KRAS (G12A)‡ | Branched (mosaicism) | ||
| 759 | 81 | M | CMML-1 | ND | 1.5 | 3 | TET2 (T1047SfsX9)* | U2AF35 (Q157R)* | KRAS (K117R) | Branched (LOH NRAS) |
| UPN . | Age . | Sex (M/F) . | WHO category . | Karyotype . | Monocytes (g/L) . | No. of mutations . | First mutation . | Second mutation . | Third mutation . | Fourth mutation . | Architecture . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 428 | 74 | F | CMML-1 | Normal | 5.1 | 1 | TET2 (M993VfsX15) | - | |||
| 462 | 83 | M | CMML-2 | Normal | 5.0 | 2 | ASXL1 (E635RfsX15) | RUNX1(G60PfsX52) | Linear | ||
| 495 | 53 | M | CMML-1 | Normal | 1.9 | 2 | CBL (S407P) | SRSF2 (P95H) | Branched (LOH CBL) | ||
| 497 | 59 | M | CMML-1 | Normal | 2.1 | 1 | TET2 (L757TfsX12) | - | |||
| 498 | 84 | M | CMML-1 | Trisomy 13 | 2.2 | 3 | ASXL1 (G646WfsX12)* | ZRSR2* (splice n+1 ex9) | SRSF2 (P95L) | Branched (LOH ZRSR2) | |
| 500 | 86 | F | CMML-2 | Normal | 3.4 | 1 | TET2 (P1619LfsX4) | - | |||
| 501 | 74 | F | CMML-1 | Normal | 1.1 | 1 | TET2 (Q803×) | - | |||
| 507 | 70 | M | CMML-2 | Normal | 4.9 | 3 | SRSF2 (P95H) | CBL (W408R) | TET2 (S716×) | Branched (LOH CBL&TET2) | |
| 514 | 80 | F | CMML-1 | Normal | 1.8 | 1 | KRAS (G12S) | - | |||
| 516 | 76 | M | CMML-1 | Normal | 7.4 | 2 | TET2 (K450×) | NRAS (G12D) | Linear | ||
| 518 | 51 | M | CMML-1 | Normal | 1.6 | 1 | KRAS (G12C) | - | |||
| 524 | 90 | M | CMML-1 | Normal | 38.9 | 3 | TET2 (Q1702×) | SRSF2 (P95L) | TET2(S1525YfsX53)† | KRAS(A18D) | Linear |
| 531 | 81 | F | CMML-1 | Normal | 3.4 | 3 | TET2 (Q810×)* | SRSF2 (P95L)* | JAK2 (V617F) | Linear | |
| 536 | 79 | F | CMML-1 | Normal | 1.4 | 2 | CBL (R420L) | TET2 (S1630×) | Branched (LOH CBL) | ||
| 537 | 57 | M | CMML-1 | Normal | 3.2 | 2 | TET2 (E852×) | SRSF2 (P95H) | Linear | ||
| 550 | 85 | M | CMML-1 | Normal | 2.7 | 3 | TET2 (D1242TfsX11) | SRSF2 (P95H) | RUNX1(Y376LfsX197) | Branched (LOH TET2) | |
| 586 | 61 | F | CMML-1 | ND | 10.3 | 2 | ASXL1 (G646WfsX12) | TET2 (N275IfsX18) | Linear | ||
| 632 | 64 | M | CMML-2 | Normal | 10.0 | 3 | TET2 (N1156I) | SRSF2 (P95H) | NRAS (A59G) | Linear | |
| 638 | 80 | M | CMML-1 | Normal | 2.6 | 4 | SF3B1 (D586H) | CBL (C404Y) | SRSF2 (P95R) | ASXL1(G642×) | Branched (LOH CBL & SF3B1) |
| 644 | 82 | F | CMML-1 | Normal | 1.1 | 4 | ASXL1 (G646WfsX12)* | SRSF2(P95H)* | TET2 (S1190YfsX3) | TET2(R1214Q) | Linear |
| 654 | 70 | F | CMML-1 | Trisomy 8 | 2.3 | 3 | ASXL1 (G646WfsX12) | SRSF2(P95L) | JAK2 (V617F) | Linear | |
| 658 | 67 | M | CMML-2 | Monosomy 7 | 2.62 | 1 | ASXL1 (G646WfsX12) | - | |||
| 662 | 89 | M | CMML-1 | ND | 3.37 | 1 | TET2 (V1454SfsX4) | - | |||
| 731 | 78 | M | CMML-1 | ND | 11.0 | 2 | SRSF2 (P95L) | JAK2(V617F) | Branched (LOH JAK2) | ||
| 736 | 73 | M | CMML-1 | Normal | 5.1 | 1 | KRAS (T58I) | - | |||
| 743 | 82 | F | CMML-1 | Normal | 2.8 | 2 | TET2 (Q323×) | TET2(Q796TfsX6) | Linear | ||
| 752 | 76 | M | CMML-2 | del5q + tri 8 | 17.3 | 2 | NRAS (G12D)‡ | KRAS (G12A)‡ | Branched (mosaicism) | ||
| 759 | 81 | M | CMML-1 | ND | 1.5 | 3 | TET2 (T1047SfsX9)* | U2AF35 (Q157R)* | KRAS (K117R) | Branched (LOH NRAS) |