Table 1 Genetic abnormalities in AML
From: MYC: a multipurpose oncogene with prognostic and therapeutic implications in blood malignancies
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] |