Skip to main content
. 2021 Aug 9;14:121. doi: 10.1186/s13045-021-01111-4

Table 1.

Genetic abnormalities in AML

Type Biomarker Fusion protein/role References
Rearrangements t(8;21) (q22;q22.1) AML1-ETO or RUNX1-CBFA2T1 [616]
inv(16) (p13.1q22) or t(16;16)(p13.1;q22) CBFB-MYH11 [617]
t(15;17) (q22;q12) PML-RARA [618]
t(6;9) (p23;q24) DEK-NUp214 [619]
inv(3) (q21.3q26.2) or t(3;3) (q21.3;q26.2) GATA2-MECOM [620]
t(1;22) (p13.3;q13.3) RBM15/MKL1 [621]
t(9;22) (q43;q11) BCR-ABL1 [622]
t(6;11) (q27;q23) MLL-AF6 [623]
t(9;11) (p22;q23) MLL-AF9 [624]
t(9;11) (p21.3;q23.3) MLLT3-KMT2A [625]
t(6;9) (p23;q34) DEK-NUp214 [619]
t(3;8) (q26.2;q24) MECOM-MYC [609]
t(5;11) (q35;p15.5) NUP98-NSD1 [626]
Mutations FLT3, KRAS, NRAS, KIT, PTPN11, NF1 Signaling mediators [627]
DNMT3A, IDH1/2, TET2, ASXL1, EZH2, MLL/KMT2A Epigenetic mediators [627]
CEBPA, RUNX1, GATA2 Transcription factors [628]
TP53 Tumor suppressing factor [629]
SRSF2, U2AF1, SF3B1, ZRSR2, RBM25 Spliceosome complex [630]
NPM1 Nucleophosmin [631]
RAD21, STAG1, STAG2, SMC1A, SMC3 Cohesin complex [632]
MYC Proto-oncogene [633]