The mutation patterns and interaction with other gene alterations in 27 patients with IDH1 mutations
| UPN . | Age/sex . | FAB . | Karyotype . | IDH1 mutation . | Other genetic mutations* . | |
|---|---|---|---|---|---|---|
| n.t. change . | a.a. change . | |||||
| 1 | 75/F | 2 | N | CAT | R132H | NPM1 |
| 2 | 75/F | 1 | +8 | GGT | R132G | NPM1, FLT3/ITD, FLT3/TKD |
| 3 | 72/M | 1 | +8 | TGT | R132C | — |
| 4 | 72/M | 1 | N | TGT | R132C | RUNX1 |
| 5 | 71/F | 2 | no mitosis | AGT | R132S | NPM1, FLT3/ITD |
| 6 | 68/M | 2 | N | CAT | R132H | NPM1, FLT3/ITD, FTL3/TKD |
| 7 | 65/F | 1 | N | TGT | R132C | NPM1, FLT3/ITD |
| 8 | 65/M | 1 | Add(1)(p13), +8 | TGT | R132C | — |
| 9 | 62/F | 2 | N | CAT | R132H | NPM1 |
| 10 | 60/M | 2 | N | AGT | R132S | MLL/PTD |
| 11 | 60/F | 1 | t(9;22) | TGT | R132C | — |
| 12 | 57/M | 1 | N | TGT | R132C | — |
| 13 | 55/M | 1 | +21 | AGT | R132S | NPM1, FLT3/ITD |
| 14 | 50/M | 2 | N | GGT | R132G | NPM1, FLT3/ITD, NRAS |
| 15 | 48/M | 5 | N | CAT | R132H | NPM1 |
| 16 | 47/M | 1 | N | TGT | R132C | NPM1, PTPN11 |
| 17 | 47/M | 2 | N | CAT | R132H | CEBPA, FLT3/TKD, MLL/PTD |
| 18 | 39/M | 1 | N | TGT | R132C | PTPN11 |
| 19 | 38/F | 5 | N | CAT | R132H | NPM1, NRAS |
| 20 | 38/F | 2 | N | GGT | R132G | NPM1, FLT3/ITD |
| 21 | 35/M | 1 | N | CTT | R132L | — |
| 22 | 34/F | 1 | N | AGT | R132S | NPM1, FLT3/ITD |
| 23 | 28/F | 1 | +8 | AGT | R132S | NPM1, FLT3/ITD |
| 24 | 25/F | 2 | N | CAT | R132H | FLT3/ITD, MLL/PTD, RUNX1 |
| 25 | 26/F | 4 | N | GGT | R132G | NPM1, NRAS |
| 26 | 70/M | 4 | N | TGT | R132C | — |
| 27 | 35/F | 1 | N | TGT | R132C | NRAS |
| UPN . | Age/sex . | FAB . | Karyotype . | IDH1 mutation . | Other genetic mutations* . | |
|---|---|---|---|---|---|---|
| n.t. change . | a.a. change . | |||||
| 1 | 75/F | 2 | N | CAT | R132H | NPM1 |
| 2 | 75/F | 1 | +8 | GGT | R132G | NPM1, FLT3/ITD, FLT3/TKD |
| 3 | 72/M | 1 | +8 | TGT | R132C | — |
| 4 | 72/M | 1 | N | TGT | R132C | RUNX1 |
| 5 | 71/F | 2 | no mitosis | AGT | R132S | NPM1, FLT3/ITD |
| 6 | 68/M | 2 | N | CAT | R132H | NPM1, FLT3/ITD, FTL3/TKD |
| 7 | 65/F | 1 | N | TGT | R132C | NPM1, FLT3/ITD |
| 8 | 65/M | 1 | Add(1)(p13), +8 | TGT | R132C | — |
| 9 | 62/F | 2 | N | CAT | R132H | NPM1 |
| 10 | 60/M | 2 | N | AGT | R132S | MLL/PTD |
| 11 | 60/F | 1 | t(9;22) | TGT | R132C | — |
| 12 | 57/M | 1 | N | TGT | R132C | — |
| 13 | 55/M | 1 | +21 | AGT | R132S | NPM1, FLT3/ITD |
| 14 | 50/M | 2 | N | GGT | R132G | NPM1, FLT3/ITD, NRAS |
| 15 | 48/M | 5 | N | CAT | R132H | NPM1 |
| 16 | 47/M | 1 | N | TGT | R132C | NPM1, PTPN11 |
| 17 | 47/M | 2 | N | CAT | R132H | CEBPA, FLT3/TKD, MLL/PTD |
| 18 | 39/M | 1 | N | TGT | R132C | PTPN11 |
| 19 | 38/F | 5 | N | CAT | R132H | NPM1, NRAS |
| 20 | 38/F | 2 | N | GGT | R132G | NPM1, FLT3/ITD |
| 21 | 35/M | 1 | N | CTT | R132L | — |
| 22 | 34/F | 1 | N | AGT | R132S | NPM1, FLT3/ITD |
| 23 | 28/F | 1 | +8 | AGT | R132S | NPM1, FLT3/ITD |
| 24 | 25/F | 2 | N | CAT | R132H | FLT3/ITD, MLL/PTD, RUNX1 |
| 25 | 26/F | 4 | N | GGT | R132G | NPM1, NRAS |
| 26 | 70/M | 4 | N | TGT | R132C | — |
| 27 | 35/F | 1 | N | TGT | R132C | NRAS |
UPN indicates unique patient number; N, normal karyotype; NM, no mitosis; n.t., nucleotide; and a.a., amino acid.
The gene alterations studied included FLT3/ITD, FLT3/TKD and MLL/PTD and mutations of NRAS, KRAS, KIT, PTPN11, WT1, NPM1, JAK2, RUNX1, and CEBPA.