Table 1

Somatic variations identified in five AML patients. Recurrent mutations are underlined. Mutations in genes with gene expression >0.1 reads per kilobase of transcript per million mapped reads (RPKM) are shown. Sanger resequencing 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 RPKM >0.1.

CaseSomatic mutations present in leukemia and residual HSCsLeukemia-specific somatic mutations
SU008SKP2, PDZD3, ELP2SEMA5A, OR4A47, CNDP1, ISYNA1, FLT3
SU014NPM1, SMC1A, KAISO, SMG7, SLC22A10NUP210, USP13, SMPD3, IDH1, FLT3
SU030KCTD4SLC12A1, FLT3
SU048TET2 (biallelic), SMC1A, ACSM1, FKBP9L, GOLGA7B, NPHP4,
OLFM2, ZMYM3
RHCG, FLT3
SU070TET2 (biallelic), CTCF, PLA2G4D, CXorf36, KALRN, GZF1, CACNA1H,
CXorf66, PRPF6, SCN4B, GABARAPL1, ncRNA00200, DOCK9
TMEM8B, TMEM20, PXDN, ZRANB1, FLT3
Total32 (7)19 (6)