Partial list of constitutively active tyrosine kinases in bcr/abl-negative chronic myeloid disorders that are predicted or documented to be imatinib sensitive
Fusion . | Translocation . | Deletion . | Mutation . | Disease association . | Imatinib response* . | Study . |
|---|---|---|---|---|---|---|
| PDGFRB | ||||||
| ETV6/PDGFRB | t(5;12)(q33;p13) | — | — | CMML | Yes | Golub et al10 |
| CEV14/PDGFRB | t(5;14)(q33;q32) | — | — | AML | — | Abe et al36 |
| HIP1/PDGFRB | t(5;7)(q33;q11) | — | — | CMML | — | Ross et al23 |
| H4 (D10S170)/PDGFRB | t(5;10)(q33;q21) | — | — | uCMPD | Yes | Kulkarni et al34 , Schwaller et al35 |
| RAB5/PDGFRB | t(5;17)(q33;p13) | — | — | CMML | — | Magnusson et al33 |
| PDE4DIP/PDGFRB | t(1;5)(q23;q33) | — | — | uCMPD | Yes | Wilkinson et al18 |
| PDGFRA | ||||||
| BCR/PDGFRA | t(4;22)(q12;q11) | — | — | uCMPD | Yes | Trempat et al37 , Baxter et al38 |
| F1P1L1/PDGFRA | — | 4q12‡ | — | SM-eos/CEL | Yes | Cools et al11 , Pardanani et al14 |
| c-kit | ||||||
| — | — | — | D816V/F/Y§ | MCD | No | Ma et al87 |
| — | — | — | V560G | — | — | Furitsu et al51 |
| — | — | — | E839K | — | — | Longley et al28 |
| — | — | — | D820G | — | — | Pignon et al29 |
| Abl | ||||||
| ETV6/ABL | Complex† | — | — | uCMPD | Yes | Van Limbergen et al30 , Andreasson et al31 |
| ET6/ARG | t(1;12)(q25;p13) | — | — | AML | Yes | Nishimura et al32 |
Fusion . | Translocation . | Deletion . | Mutation . | Disease association . | Imatinib response* . | Study . |
|---|---|---|---|---|---|---|
| PDGFRB | ||||||
| ETV6/PDGFRB | t(5;12)(q33;p13) | — | — | CMML | Yes | Golub et al10 |
| CEV14/PDGFRB | t(5;14)(q33;q32) | — | — | AML | — | Abe et al36 |
| HIP1/PDGFRB | t(5;7)(q33;q11) | — | — | CMML | — | Ross et al23 |
| H4 (D10S170)/PDGFRB | t(5;10)(q33;q21) | — | — | uCMPD | Yes | Kulkarni et al34 , Schwaller et al35 |
| RAB5/PDGFRB | t(5;17)(q33;p13) | — | — | CMML | — | Magnusson et al33 |
| PDE4DIP/PDGFRB | t(1;5)(q23;q33) | — | — | uCMPD | Yes | Wilkinson et al18 |
| PDGFRA | ||||||
| BCR/PDGFRA | t(4;22)(q12;q11) | — | — | uCMPD | Yes | Trempat et al37 , Baxter et al38 |
| F1P1L1/PDGFRA | — | 4q12‡ | — | SM-eos/CEL | Yes | Cools et al11 , Pardanani et al14 |
| c-kit | ||||||
| — | — | — | D816V/F/Y§ | MCD | No | Ma et al87 |
| — | — | — | V560G | — | — | Furitsu et al51 |
| — | — | — | E839K | — | — | Longley et al28 |
| — | — | — | D820G | — | — | Pignon et al29 |
| Abl | ||||||
| ETV6/ABL | Complex† | — | — | uCMPD | Yes | Van Limbergen et al30 , Andreasson et al31 |
| ET6/ARG | t(1;12)(q25;p13) | — | — | AML | Yes | Nishimura et al32 |
aCML indicates atypical chronic myeloid leukemia; uCMPD, unclassified chronic myeloproliferative disorder (some of these patients are described as having atypical CML); SM-eos, eosinophilia-associated systemic mastocytosis; MCD, mast cell disease; ETV6, ets variant gene 6 (TEL oncogene); CEV14, clonal evolution-related gene on chromosome 14; HIP1, Huntington interacting protein 1; RAB5, rabaptin 5; BCR, breakpoint cluster region; D10S170, DNA segment on chromosome 10 (unique) 170; PDE4DIP, phosphodiesterase 4D interacting protein (myomegalin); FIP1L1, FIP1-like 1; and —, not applicable.
Clinical response to imatinib therapy documented (where tested).
All patients have complex chromosomal rearrangements that require at least 3 chromosomal breaks.
Deletion is submicroscopic.
Imatinib resistant.