Table 1.
Somatic variations identified in five AML patients.
| Case | Somatic mutations present in leukemia and residual HSCs | Leukemia-specific somatic mutations |
|---|---|---|
| SU008 | SKP2, PDZD3, ELP2 | SEMA5A, OR4A47, CNDP1, ISYNA1, FLT3 |
| SU014 | NPM1, SMC1A, KAISO, SMG7, SLC22A10 | NUP210, USP13, SMPD3, IDH1, FLT3 |
| SU030 | KCTD4 | SLC12A1, FLT3 |
| SU048 | TET2 (biallelic), SMC1A, ACSM1, FKBP9L, GOLGA7B, NPHP4, OLFM2, ZMYM3 | RHCG, FLT3 |
| SU070 | TET2 (biallelic), CTCF, PLA2G4D, CXorf36, KALRN, GZF1, CACNA1H, CXorf66, PRPF6, SCN4B, GABARAPL1, NcRNA00200, DOCK9 | TMEM8B, TMEM20, PXDN, ZRANB1, FLT3 |
|
| ||
| Total | 32 (7) | 19 (6) |
Recurrent mutations.
Mutations in genes with RPKM gene expression <0.1.
Sanger re-sequencing of leukemia DNA and CD3+ T cell DNA confirmed all of the listed variations as somatic mutations. RNA sequencing was performed on bulk AML cells for leukemic samples SU008, SU014, SU030, and SU048 to determine which variations were expressed at a level of reads per kilobase of transcript per million mapped reads > 0.1.