Table 1. Clinical relevance of the most important mutated genes in CLL patients studied by NGS.
| Gene mutation | Frequency | Association with | Prognosis | References |
|---|---|---|---|---|
| TP53 | 5.3–50%* | Del (17p13) UM-IGHV | Poor | 2, 8, 17, 21, 23, 91, 93, 95 |
| ATM | 9–23.2% | Del (11q23) UM-IGHV | Poor | 2, 8, 17, 23, 91, 93 |
| RPS15 | 0.88–19.5% | UM-IGHV | Poor | 9, 10, 21, 23, 45 |
| BIRC3 | 4–15.5% | Del (11q22-q23) UM-IGHV | Poor | 2, 16, 17, 21, 91, 93 |
| NOTCH1 | 4–24.1% | Trisomy 12 UM-IGHV | Poor | 11, 17, 18, 21, 23, 45, 91, 93 |
| SF3B1 | 5–24.9% | Del (11q22-q23) ATM mutations UM-IGHV ZAP70 expression | Poor | 2, 10, 17, 18, 21, 23, 45, 91, 93, 95 |
| MYD88 | 1.5–10% | Del (13q14) M-IGHV | Good | 2, 8, 10, 16–18, 45, 91, 95 |
| XPO1 | 1.8–11.5% | UM-IGHV | Poor? | 2, 10, 17, 18, 45, 91, 95 |
| FBXW7 | 1.3–5% | Trisomy 12 | Poor | 2, 8, 10, 17, 45, 95 |
| SAMHD1 | 2–9.8% | LOH on chromosome 20 | Poor? | 2, 10, 29, 45, 91 |
*At the time of diagnosis, TP53 mutations are reported in approximately 5% of patients. On the other hand, in patients with relapsed and refractory CLL, the prevalence can be up to 50% of patients.