Table 1 a non-exhaustive overview of most frequent mutations in AML, with their functional overlap, examples of targeted therapy and prognosis value (the effect of mutation associations on the prognosis has not been developed). *: double CEBPA mutation. NS: not significant
From: The contribution of single-cell analysis of acute leukemia in the therapeutic strategy
Functional Mutations | Genes | Functional Overlaps | Targeted Treatment | Prognostic Value |
|---|---|---|---|---|
Signal transduction and oncogenes | FLT3 NRAS KRAS KIT | Transcription factors | Midostaurin Gilteritinib Farnesyl transferase Tyrosine kinase inhibitors | Poor Poor NS Poor |
Splicing mutations | SF3B1 ZRSR2 U2AF1 SRSF2 | Epigenetic modifiers | H3B-8800 GSK3326595 Gilteritinib | NS Poor Poor Poor |
Transcription factors | RUNX1 CEBPA GATA2 BCOR BCORL | Oncogenes Epigenetic modifiers | Sorafenib tosylate Inhibitors of lysine specific demethylase 1 (LSD1) JAK/STAT inhibitors | Favorable Good* Poor Poor |
Epigenetic modifiers | BCOR BCORL SRSF2 DNMT3A IDH1 IDH2 TET2 ASXL1 EZH2 | Splicing Transcription Tumor suppressor Chromatin modifiers | AG-120 AG-221 BI 836858 Bromodomain inhibitors | Poor Poor Poor Poor Favorable Poor Poor Poor |
Chromatin modifiers | ASXL1 EZH2 Cohesin | Epigenetic Tumor suppressor | mTORC1/mTORC2 inhibitor Bromodomain inhibitors | Poor Poor NS |
Tumor suppressors | TET2 TP53 WT1 | Epigenetic Chromatin modifiers | BI 836858 pevonedistat Entospletinib TP-0903 | Poor Poor Poor |
Licensing mutations | NPM1 | entospletinib | Favorable |