The mutation patterns and interaction with other gene alterations in 54 patients with ASXL1 mutations
| UPN . | Age, y/sex . | FAB . | Karyotype . | ASXL1 mutation . | Other genetic mutations* . | |
|---|---|---|---|---|---|---|
| n.t. change . | a.a. change . | |||||
| 1 | 73/F | 4 | N | c.1772dupA | p.Y591X | FLT3-ITD |
| 2 | 73/F | 4 | del(7q) | c.1773C>G | p.Y591X | NRAS |
| 3 | 62/M | 4 | i(17)(q10) | c.1900_1922del | p.E635RfxX15 | RUNX1 |
| 4 | 54/M | 2 | t(3;21;8)(q12;q22;q22) | c.1900_1922del | p.E635RfxX15 | c-KIT |
| 5 | 75/M | 5 | der(2)dup(2)(q21q31) | c.1900_1922del | p.E635RfxX15 | NPM1 |
| 6 | 47/F | 2 | N | c.1900_1922del | p.E635RfxX15 | |
| 7 | 42/M | 2 | t(16;21)(q24;q22), +8 | c.1900dupA | p.R634KfsX24 | NRAS |
| 8 | 67/M | NA | No mitosis | c.1918_1928del | p.A640GfsX14 | |
| 9 | 65/F | 1 | t(3;3) | c.1934dupG | G646WfsX12 | NRAS |
| 10 | 75/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 11 | 85/F | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 12 | 66/M | 2 | del(7q) | c.1934dupG | G646WfsX12 | NPM1, RUNX1 |
| 13 | 84/F | 4 | N | c.1934dupG | G646WfsX12 | FLT3-TKD, RUNX1,MLL1-PTD |
| 14 | 70/M | 5 | i(21) | c.1934dupG | G646WfsX12 | |
| 15 | 60/F | 4 | t(1;3)(p36;p21) | c.1934dupG | G646WfsX12 | FLT3-ITD, NRAS |
| 16 | 29/F | 4 | +11p | c.1934dupG | G646WfsX12 | |
| 17 | 49/F | 1 | −X | c.1934dupG | G646WfsX12 | FLT3-TKD |
| 18 | 61/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 19 | 42/F | 4 | N | c.1934dupG | G646WfsX12 | FLT3-ITD, RUNX1 |
| 20 | 72/M | 1 | +8 | c.1934dupG | G646WfsX12 | IDH1 |
| 21 | 42/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 22 | 74/M | 4 | −Y | c.1934dupG | G646WfsX12 | RUNX1 |
| 23 | 71/M | 2 | del(12)(p12p13), −7 | c.1934dupG | G646WfsX12 | RUNX1, PTPN11 |
| 24 | 43/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 25 | 67/M | 4 | +8 | c.1934dupG | G646WfsX12 | RUNX1 |
| 26 | 75/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1, PTPN11 |
| 27 | 79/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 28 | 82/M | 5 | +8 | c.1934dupG | G646WfsX12 | RUNX1 |
| 29 | 52/M | 0 | Inadequate | c.1934dupG | G646WfsX12 | |
| 30 | 27/F | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | c-KIT |
| 31 | 74/M | 0 | del(5q) | c.1934dupG | G646WfsX12 | PTPN11 |
| 32 | 62/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 33 | 84/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1, FLT3-TKD |
| 34 | 76/M | 2 | +8 | c.1934dupG | G646WfsX12 | |
| 35 | 55/F | 2 | +8 | c.1934dupG | G646WfsX12 | |
| 36 | 57/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 37 | 77/M | 2 | Inadequate | c.1934dupG | G646WfsX12 | RUNX1 |
| 38 | 90/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 39 | 55/M | 4 | +8 | c.1934dupG | G646WfsX12 | FLT3-ITD |
| 40 | 24/F | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | NRAS |
| 41 | 44/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 42 | 69/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 43 | 79/F | 4 | +21 | c.1934dupG | G646WfsX12 | PTPN11, MLL-PTD |
| 44 | 30/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 45 | 70/M | 4 | N | c.2290delC | p.L764YfsX8 | MLL-PTD |
| 46 | 66/M | 4 | N | c.2324delT | pL775X | NRAS |
| 47 | 84/M | 0 | Not done | c.2324T>G | pL775X | RUNX1 |
| 48 | 24/M | 5 | t(9;11;13)(p22;q23;q34) | c.2387G>A | p.W796X | FLT3-TKD |
| 49 | 78/M | 4 | del(11q23) | c.2415delC | p.T806PfsX12 | |
| 50 | 54/M | 4 | N | c.2641dupA | pR881KfsX13 | PTPN11 |
| 51 | 61/F | 1 | add(5)(q22) | c.2921_2922insTCTT | p.C975LfsX8 | |
| 52 | 36/F | 2 | t(8;21)(q22;q22) | c.3002_3011delinsTAGGC | p.T1001IfsX4 | |
| 53 | 22/M | 4 | −7 | c.4127dupG | p.P1377SfsX3 | FLT3-TKD |
| 54 | 67/M | 0 | complex | c.4363delA | p.N1455IfsX20 | |
| UPN . | Age, y/sex . | FAB . | Karyotype . | ASXL1 mutation . | Other genetic mutations* . | |
|---|---|---|---|---|---|---|
| n.t. change . | a.a. change . | |||||
| 1 | 73/F | 4 | N | c.1772dupA | p.Y591X | FLT3-ITD |
| 2 | 73/F | 4 | del(7q) | c.1773C>G | p.Y591X | NRAS |
| 3 | 62/M | 4 | i(17)(q10) | c.1900_1922del | p.E635RfxX15 | RUNX1 |
| 4 | 54/M | 2 | t(3;21;8)(q12;q22;q22) | c.1900_1922del | p.E635RfxX15 | c-KIT |
| 5 | 75/M | 5 | der(2)dup(2)(q21q31) | c.1900_1922del | p.E635RfxX15 | NPM1 |
| 6 | 47/F | 2 | N | c.1900_1922del | p.E635RfxX15 | |
| 7 | 42/M | 2 | t(16;21)(q24;q22), +8 | c.1900dupA | p.R634KfsX24 | NRAS |
| 8 | 67/M | NA | No mitosis | c.1918_1928del | p.A640GfsX14 | |
| 9 | 65/F | 1 | t(3;3) | c.1934dupG | G646WfsX12 | NRAS |
| 10 | 75/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 11 | 85/F | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 12 | 66/M | 2 | del(7q) | c.1934dupG | G646WfsX12 | NPM1, RUNX1 |
| 13 | 84/F | 4 | N | c.1934dupG | G646WfsX12 | FLT3-TKD, RUNX1,MLL1-PTD |
| 14 | 70/M | 5 | i(21) | c.1934dupG | G646WfsX12 | |
| 15 | 60/F | 4 | t(1;3)(p36;p21) | c.1934dupG | G646WfsX12 | FLT3-ITD, NRAS |
| 16 | 29/F | 4 | +11p | c.1934dupG | G646WfsX12 | |
| 17 | 49/F | 1 | −X | c.1934dupG | G646WfsX12 | FLT3-TKD |
| 18 | 61/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 19 | 42/F | 4 | N | c.1934dupG | G646WfsX12 | FLT3-ITD, RUNX1 |
| 20 | 72/M | 1 | +8 | c.1934dupG | G646WfsX12 | IDH1 |
| 21 | 42/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 22 | 74/M | 4 | −Y | c.1934dupG | G646WfsX12 | RUNX1 |
| 23 | 71/M | 2 | del(12)(p12p13), −7 | c.1934dupG | G646WfsX12 | RUNX1, PTPN11 |
| 24 | 43/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 25 | 67/M | 4 | +8 | c.1934dupG | G646WfsX12 | RUNX1 |
| 26 | 75/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1, PTPN11 |
| 27 | 79/M | 2 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 28 | 82/M | 5 | +8 | c.1934dupG | G646WfsX12 | RUNX1 |
| 29 | 52/M | 0 | Inadequate | c.1934dupG | G646WfsX12 | |
| 30 | 27/F | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | c-KIT |
| 31 | 74/M | 0 | del(5q) | c.1934dupG | G646WfsX12 | PTPN11 |
| 32 | 62/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 33 | 84/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1, FLT3-TKD |
| 34 | 76/M | 2 | +8 | c.1934dupG | G646WfsX12 | |
| 35 | 55/F | 2 | +8 | c.1934dupG | G646WfsX12 | |
| 36 | 57/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 37 | 77/M | 2 | Inadequate | c.1934dupG | G646WfsX12 | RUNX1 |
| 38 | 90/M | 2 | N | c.1934dupG | G646WfsX12 | CEBPA |
| 39 | 55/M | 4 | +8 | c.1934dupG | G646WfsX12 | FLT3-ITD |
| 40 | 24/F | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | NRAS |
| 41 | 44/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 42 | 69/M | 4 | N | c.1934dupG | G646WfsX12 | RUNX1 |
| 43 | 79/F | 4 | +21 | c.1934dupG | G646WfsX12 | PTPN11, MLL-PTD |
| 44 | 30/M | 2 | t(8;21)(q22;q22) | c.1934dupG | G646WfsX12 | |
| 45 | 70/M | 4 | N | c.2290delC | p.L764YfsX8 | MLL-PTD |
| 46 | 66/M | 4 | N | c.2324delT | pL775X | NRAS |
| 47 | 84/M | 0 | Not done | c.2324T>G | pL775X | RUNX1 |
| 48 | 24/M | 5 | t(9;11;13)(p22;q23;q34) | c.2387G>A | p.W796X | FLT3-TKD |
| 49 | 78/M | 4 | del(11q23) | c.2415delC | p.T806PfsX12 | |
| 50 | 54/M | 4 | N | c.2641dupA | pR881KfsX13 | PTPN11 |
| 51 | 61/F | 1 | add(5)(q22) | c.2921_2922insTCTT | p.C975LfsX8 | |
| 52 | 36/F | 2 | t(8;21)(q22;q22) | c.3002_3011delinsTAGGC | p.T1001IfsX4 | |
| 53 | 22/M | 4 | −7 | c.4127dupG | p.P1377SfsX3 | FLT3-TKD |
| 54 | 67/M | 0 | complex | c.4363delA | p.N1455IfsX20 | |
UPN indicates unique patient number; FAB, French-American-British; n.t., nucleotide; a.a., amino acid; N, normal karyotype; ITD, internal tandem duplication; NA, not applicable; TKD, tyrosine kinase domain; and PTD, partial tandem duplication.
The gene alterations studied included FLT3-ITD, FLT3-TKD, and MLL-PTD, mutations of NRAS, KRAS, KIT, PTPN11, WT1, NPM1, JAK2, RUNX1, CEBPA, and IDH1.