Table 2.
Genes with Recurrent Mutations in De Novo AML Detected in MDS and sAML Genomes.
| Gene and Mutation* | Present in MDS Sample | Present in sAML Sample |
|---|---|---|
| CDH23 (1235insL)† | No | Yes |
| NPM1 (W288fs)‡ | Yes | Yes |
| PTPN11 (G60R)‡ | No | Yes |
| RUNX1 | ||
| G170fs | No | Yes |
| del(21) (q22.11) | Yes | Yes |
| SMC3 (e8-1 splice)† | Yes | Yes |
| STAG2 (H738fs) | Yes | Yes |
| TP53 (V272M) | Yes | Yes |
| U2AF1 (S34F)‡ | Yes | Yes |
| UMODL1† | ||
| T533P | Yes | Yes |
| V882M | Yes | Yes |
| WT1 (D436E) | No | Yes |
| ZSWIM4 (P818A)† | Yes | Yes |
*
The mutation is listed according to the amino acid position. The abbreviation SAML denotes secondary AML.
†
This mutation has not previously been reported in MDS or AML.
‡
The same codon was affected in more than one subject.