Table 2.
Genomic alteration | Disease type | Incidence of the alteration | Prognostic impact | Proposed Mechanism | Reference |
---|---|---|---|---|---|
TP53 mutation | DLBCL | 22%-24% | Poor | Impaired p53 mediated response to nucleolar stress | [14, 146] |
CLL | 7-9% | Poor | [94, 147–149] | ||
ALCL | 8% | Poor | [145] | ||
ALL | 14-15% | Poor | [15, 150] | ||
AML | 5%-9% | Poor | [92, 151] | ||
MM | <5% | Poor | [152] | ||
TP53 deletion | DLBCL | 12% | Poor | [16] | |
CLL | 5-12% | Poor | [147, 148] | ||
ALL | 11% | Poor | [15] | ||
MM | 9.5% | Poor | [152] | ||
ARF deletion | DLBCL | 35% | Poor | Increased MDM2-dependent p53 degradation | [153] |
FL | 8% | Poor | [154] | ||
ALL | 14-15% | Poor | [15, 150, 155] | ||
RB1 loss | DLBCL | 11% | Neutral | Loss of G1/S checkpoint | [156] |
CLL | 20% | Neutral | [157] | ||
ALCL | 40% | Good | [103] | ||
ALL | 9% | Neutral | [158, 159] | ||
RPS15 mutation | CLL | 19% (RELAPSE) | Poor | Impaired p53 mediated response to nucleolar stress | [118] |
RPL5 mutation | MM | Sporadic | NE | [111] | |
T-ALL | <5% | NE | [108] | ||
RPL5 deletion | MM | 20% | Poor | [110] | |
RPL10 mutation | T-ALL | 5% | NE | [108] | |
RPL22 deletion | T-ALL | 10% | NE | [160] | |
NPM1 mutation | AML | 53% | Good* | Increased sensitivity to nucleolar stress | [91] |
NPM1-ALK | ALCL | 55% | Good | [161] |
Abbreviations: NE (not evaluated), DLBCL (diffuse large B-cell lymphoma), FL (Follicular lymphoma), CLL (chronic lymphoid leukemia), ALCL (anaplastic large T-cell lymphoma), ALL (acute lymphoid leukemia), T-ALL (T-cell acute lymphoid leukemia), MM (Multiple Myeloma), AML (acute myeloid leukemia)
*Associated with good prognosis in the absence of FLT3 genomic alterations