Table 3.
Acquired ribosomopathies.
| Acquired Ribosomopathies | |||
|---|---|---|---|
| Disease | Gene Mutated | Role in Ribosome Biogenesis | Clinical Manifestations |
| 5q− syndrome | RPS14 [11] | 40S subunit protein | Macrocytic anemia and erythroid hypoplasia; may progress to AML |
| Acute myeloid leukemia (AML) | NPM1 [139] | Ribosome processing | AML with normal karyotype |
| Pediatric acute lymphoblastic leukemia (T-ALL) |
RPL5, RPL10, RPL22 [135] |
60S subunit proteins | T-ALL |
| Relapsed CLL | RPS15, RPSA, RPS20 [140] | 40S subunit proteins | Relapse after first-line treatment |