Table 1.
Mutation | Mechanism of action | Prevalence in T-ALL |
---|---|---|
t(7;9)(q34;q34) t(9;14)(q34.3;q11.2) |
NOTCH1 truncation and translocation to the TCR locus. Overexpression and ligand independent activation | 1% |
NOTCH1 HD class I | Ligand hypersensitivity or independent activation | 40–45% |
NOTCH1 HD class II | Ligand hypersensitivity or independent activation | 1% |
NOTCH1 JME | Ligand hypersensitivity or independent activation | 3% |
NOTCH1 ΔPEST | Increased activated NOTCH1 protein stability | 10–20% |
FBXW7 mutations | Increased NOTCH1, c-MYC, Cyclin E, JUN and mTOR protein stability | 15% |