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. Author manuscript; available in PMC: 2013 Jul 20.
Published in final edited form as: Cell. 2012 Jul 20;150(2):264–278. doi: 10.1016/j.cell.2012.06.023

Table 1.

Patient-specific mutations that may contribute to AML pathogenesis

UPN WGS# FAB Age at Dx Structural Variants1 Clones OS (months) Mutated in AML2, expressed in patient3 Mutated in AML2, not expressed in patient4 Mutated in other cancer types5, expressed in patient3 Inherited mutation in AML gene, expressed in patient3
933124 AML1 M1 57 3 1 24.6 NPM1, FLT3, SMC3, DNMT3A, GPR183, TTN PCDH24, SLC15A1, PTPRT, GPR123 PDXDC1, PRKRA 6
807970 AML2 M1 38 0 2 54.9 NPM1, IDH1, NRAS, CEP170, C19orf62 FREM2
123172 AML3 M1 56 0 2 53.9 NPM1, FLT3, SMC1A, PTPN11, ZFHX3, UNC5B EPHA8, EGFL8 BMS1, RFC1
831711 AML4 M1 57 0 1 53.4 STAG2, TET2 MUC5B, CACNA1E CAMTA1, ARHGAP5
849660 AML5 M1 22 5 1 27 KAT2B
808642 AML6 M1 61 5 2 15.5 FLT3, TET2 ZNF687, MAP1B, TRPC1 DDR2, ATP9B, USP44
509754 AML7 M1 21 8 2 73.9 NPM1, IDH1 TRPM4, WNK4
327733 AML8 M1 32 3 2 56.3 NPM1, IDH1, SLC24A3, MPND
224143 AML21 M1 67 1 1 0.8 NPM1, FLT3, DNMT3A MYH14, MUC5B, MUC5B, ABCA10
545259 AML33 M1 30 0 1 33.7 CEBPA GBP4 TRIM24
548327 AML34 M1 51 2 2 31.9 NPM1, IDH1 LAMA5, EPB41L5, ANKRD24 SOS1
804168 AML40 M1 53 1 1 30 NPM1, FLT3, WT1, PHF6, LRRC37B SDK2, SRCRB4D, FAM5C, LBXCOR1, OR4C15 MED14, DAGLB
709968 AML9 M3 25 2 2 71.7 PML-RARA 6, FLT3 ODZ2 PTPN11 Y197*
863018 AML10 M3 62 4 2 69.4 PML-RARA 6, UNC5B, COL11A2, ABL1 GDPD4 SHQ1, DDR2, MLC1 6
478908 AML11 M3 50 1 2 35.5 PML-RARA 6, FLT3, RBKS DCT CACNA2D3
344551 AML12 M3 48 3 1 69.3 PML-RARA 6, WT1, NAV1, NOS1 C1orf168 TTLL5, PAPPA2, BICD1
673778 AML13 M3 53 3 4 76.1 PML-RARA 6, ETV6, SRRM2 TOP3B EWSR1, MLL3-BAG2 6
321258 AML14 M3 31 1 3 64.3 PML-RARA 6, WAC, HIVEP1, C5orf25 CACNA1E, SI AFF2, USP9X, RUFY1, PRPF8
758168 AML15 M3 25 5 1 49.8 PML-RARA 6, AKAP13, DIS3 DNAH9, CNTN5, MUC5B CUL3, CELSR1 WT1 R430* 7
455499 AML16 M3 29 3 2 37.1 PML-RARA 6 OVGP1
202127 AML48 M3 68 1 1 1 PML-RARA 6, FLT3, HERC1 PKD1L2, FAM5C
529205 AML49 M3 59 2 2 31.3 PML-RARA 6, FLT3 EPHB1, LOC100133292 AURKB, IKZF1, PTPRG
501944 AML50 M3 40 1 3 73.6 PML-RARA 6 KRTAP26-1, ZNF788 MYCBP2, MAX, VCAM1, ARID2, KIDINS220, CNOT3
943309 AML51 M3 35 1 3 63.1 PML-RARA 6, FLT3 DCTN1
1

Details regarding structural variants in Supplemental Table 5.

2

At least 4 separate cases of AML with somatic mutations in this gene within 222 cases analyzed.

3

Gene expression ≥ 800 by Affymetrix U133 Plus2 array (chip mean 1,500).

4

Gene expression < 800 by Affymetrix U133 Plus2 array (chip mean 1,500).

5

At least 4 separate cases with somatic mutations in this gene in Cosmic databases.

6

Structural variant

7

Absent in ESP cohort (N = 4540).