Impact of cytogenetics and molecular prognostic markers in patients with myelofibrosis
| Cytogenetics/molecular markers . | Frequency, % . | Impact on LT . | Impact on survival . | Comments . |
|---|---|---|---|---|
| Diploid karyotype32,33 | 57-71 | 7% at 5 y | 46 mo | |
| Sole abnormalities, standard risk | 15-22 | Comparable with diploid karyotype | Comparable survival with diploid karyotype | |
| Sole del 20q32,33 | 4-7 | Association noted between sole 20q− and leucopenia and thrombocytopenia32 | ||
| Sole del 13q32,33 | 2-4 | |||
| Sole +932,33 | 2-3 | |||
| Chromosome 1 translocation/duplication32 | 2-3 | |||
| Other miscellaneous sole abnormalities other than listed under unfavorable risk32 | 5 | |||
| Sole abnormalities, unfavorable risk | 4-7 | Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Poor survival comparable to diploid karyotype (15 mo vs 46 mo) | |
| Sole +830,32 | 2-3 | |||
| Sole −7/7q−/−5/5q−/Inv 332 | 1-2 | |||
| Chromosome 17 abnormalities33 | 1-2 | |||
| Double abnormalities* | ||||
| Standard risk32 | 2-3 | Comparable with diploid karyotype | Similar to diploid karyotype | |
| Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Similar to complex karyotype | |||
| Double abnormalities† | ||||
| Unfavorable risk32 | 2-3 | |||
| Complex karyotype (≥ 3 abnormalities)32,33 | 6-8 | Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Poor survival comparable to diploid karyotype (15 mo vs 46 mo) | ∼ 50% patients with CK have monosomal karyotype with very poor survival30 |
| JAK2V617F41-44 | 55-60 | No difference compared with WT | No difference compared with WT | Low JAK2V617F allele burden associated with inferior survival42,43 ; and associated with myelodepletive type of MF |
| MPL45 | 8-10 | No difference compared with JAK2V617F mutation positive or unmutated JAK2/MPL | No difference compared with JAK2V617F mutation positive or unmutated JAK2/MPL | MPL and JAK2 unmutated patients were significantly younger than JAK2-mutated patients45 |
| LNK39 | 2-3 | Not known | Not known | |
| TET286 | 7-17 | No | No | More frequent in older patients compared with younger patients86 |
| DNMT3A87 | 10-15 | No | No | |
| IDH88 | 4 | Shortened LFS in PMF | Short survival in PMF | |
| EZH289 | 6-9 | Shorter LFS in patients with PMF with EZH2 mutations | Associated with short survival in idiopathic MF, independent of IPSS | Associated with higher leukocyte count, blast cell counts, and larger splenomegaly |
| SUZ12/EED90,91 | 1-3 | Not clear | Not clear | May be associated with LT |
| Cytogenetics/molecular markers . | Frequency, % . | Impact on LT . | Impact on survival . | Comments . |
|---|---|---|---|---|
| Diploid karyotype32,33 | 57-71 | 7% at 5 y | 46 mo | |
| Sole abnormalities, standard risk | 15-22 | Comparable with diploid karyotype | Comparable survival with diploid karyotype | |
| Sole del 20q32,33 | 4-7 | Association noted between sole 20q− and leucopenia and thrombocytopenia32 | ||
| Sole del 13q32,33 | 2-4 | |||
| Sole +932,33 | 2-3 | |||
| Chromosome 1 translocation/duplication32 | 2-3 | |||
| Other miscellaneous sole abnormalities other than listed under unfavorable risk32 | 5 | |||
| Sole abnormalities, unfavorable risk | 4-7 | Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Poor survival comparable to diploid karyotype (15 mo vs 46 mo) | |
| Sole +830,32 | 2-3 | |||
| Sole −7/7q−/−5/5q−/Inv 332 | 1-2 | |||
| Chromosome 17 abnormalities33 | 1-2 | |||
| Double abnormalities* | ||||
| Standard risk32 | 2-3 | Comparable with diploid karyotype | Similar to diploid karyotype | |
| Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Similar to complex karyotype | |||
| Double abnormalities† | ||||
| Unfavorable risk32 | 2-3 | |||
| Complex karyotype (≥ 3 abnormalities)32,33 | 6-8 | Significant high risk of LT compared with diploid karyotype (46% vs 7% at 5 y) | Poor survival comparable to diploid karyotype (15 mo vs 46 mo) | ∼ 50% patients with CK have monosomal karyotype with very poor survival30 |
| JAK2V617F41-44 | 55-60 | No difference compared with WT | No difference compared with WT | Low JAK2V617F allele burden associated with inferior survival42,43 ; and associated with myelodepletive type of MF |
| MPL45 | 8-10 | No difference compared with JAK2V617F mutation positive or unmutated JAK2/MPL | No difference compared with JAK2V617F mutation positive or unmutated JAK2/MPL | MPL and JAK2 unmutated patients were significantly younger than JAK2-mutated patients45 |
| LNK39 | 2-3 | Not known | Not known | |
| TET286 | 7-17 | No | No | More frequent in older patients compared with younger patients86 |
| DNMT3A87 | 10-15 | No | No | |
| IDH88 | 4 | Shortened LFS in PMF | Short survival in PMF | |
| EZH289 | 6-9 | Shorter LFS in patients with PMF with EZH2 mutations | Associated with short survival in idiopathic MF, independent of IPSS | Associated with higher leukocyte count, blast cell counts, and larger splenomegaly |
| SUZ12/EED90,91 | 1-3 | Not clear | Not clear | May be associated with LT |