Table 1.
ID | Sex | Age (yr) | FAB | Cytogenetics |
PHF6 lesion
|
Cooperative gene mutations
|
||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Type of alteration | Predicted protein | IDH1 | IDH2 | TET2 | ASXL1 | FLT3 | NPM1 | CEBPA | WT1 | KRAS | NRAS | |||||
1 | M | 60 | M0 | normal | Missense | H329L | WT | WT | WT | WT | TKD | WT | WT | WT | WT | WT |
2 | M | 45 | M1 | normal | Nonsense | R274X | WT | WT | WT | WT | WT | WT | WT | WT | WT | WT |
3 | M | 72 | 2nd | tri(8) | Frameshift | R335fs | WT | WT | WT | A637fs | WT | WT | WT | NA | NA | NA |
4 | M | 66 | M2 | tri(8) | Nonsense | R342X | WT | R140Q | WT | WT | WT | WT | WT | NA | NA | NA |
5 | M | 65 | 2nd | normal | Missense | H302Y | WT | WT | WT | WT | WT | WT | WT | NA | NA | NA |
6 | M | 41 | M2 | tri(8) | Frameshift | C20fs | WT | WT | WT | WT | ITD | WT | WT | NA | NA | NA |
7 | M | 74 | 2nd | del(5q),-7,-20 | Missense | A40G | WT | WT | WT | WT | ITD | WT | H195fs | NA | NA | NA |
8 | M | NA | M0 | NA | Frameshift | P200fs | WT | WT | WT | E1192X | WT | WT | WT | WT | WT | WT |
9 | F | NA | M0* | NA | Frameshift | N171fs | WT | WT | WT | WT | WT | WT | WT | WT | WT | G12V |
10 | M | NA | M0 | NA | Nonsense | R319X | WT | R172K | WT | E558X | WT | WT | P39H | WT | WT | WT |
2nd, secondary AML; TKD, tyrosine kinase domain mutation; ITD, internal tandem duplication
Biphenotypic T-myeloid leukemia