Genomic alterations observed in myeloma
| Event . | Examples . |
|---|---|
| Immunoglobulin translocations (cyclin D family) | 11q13, 6p21, 12p13 |
| Immunoglobulin translocations (MAF family) | 16q23, 20q12, 8q24 |
| Immunoglobulin translocations (MMSET/FGFR3) | 4p16 |
| MYC translocations (juxtaposition to plasma cell superenhancers) | IGH, IGL, IGJ, IGK, PRDM1, XBP1, FAM46C, NSMCE2, TXNDC5, KRAS |
| Hyperdiploid (trisomy) | 3, 5, 7, 9, 11, 15, 19, 21 |
| Chromosome deletions | 13p, 17p, 1p, 6q |
| Chromosome gains | 1q |
| Activating mutations | BRAF, NRAS, KRAS, FGFR3* |
| Inactivating mutations | TP53, FAM46C, DIS3, RB1, EGR1, SP140 |
| Genes inactivated by homozygous deletion | CDKN2C, KDM6A |
| Mutations that activate the nuclear factor-κB pathway | TRAF2, TRAF3, CYLD, BIRC2, BIRC3 |
| Mutations in genes involved in plasma cell biology | XBP1, PRDM1, IRF4 |
| Event . | Examples . |
|---|---|
| Immunoglobulin translocations (cyclin D family) | 11q13, 6p21, 12p13 |
| Immunoglobulin translocations (MAF family) | 16q23, 20q12, 8q24 |
| Immunoglobulin translocations (MMSET/FGFR3) | 4p16 |
| MYC translocations (juxtaposition to plasma cell superenhancers) | IGH, IGL, IGJ, IGK, PRDM1, XBP1, FAM46C, NSMCE2, TXNDC5, KRAS |
| Hyperdiploid (trisomy) | 3, 5, 7, 9, 11, 15, 19, 21 |
| Chromosome deletions | 13p, 17p, 1p, 6q |
| Chromosome gains | 1q |
| Activating mutations | BRAF, NRAS, KRAS, FGFR3* |
| Inactivating mutations | TP53, FAM46C, DIS3, RB1, EGR1, SP140 |
| Genes inactivated by homozygous deletion | CDKN2C, KDM6A |
| Mutations that activate the nuclear factor-κB pathway | TRAF2, TRAF3, CYLD, BIRC2, BIRC3 |
| Mutations in genes involved in plasma cell biology | XBP1, PRDM1, IRF4 |
FGFR3 mutations are only found in 5% of newly diagnosed patients with t(4;14).96