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. Author manuscript; available in PMC: 2014 Jun 5.
Published in final edited form as: Sci Transl Med. 2012 Aug 29;4(149):149ra118. doi: 10.1126/scitranslmed.3004315

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.