Table 2.
Number and common phenotypes of reported cases for EMS and the reported response for chemotherapy and TKIs.
| Fusion | Number of cases | Common phenotypes | Physical and laboratory examination | Sensitivity to chemotherap | Numbers and results of allo-SCT | Sensitivity to TKIs |
|---|---|---|---|---|---|---|
| ZNF198-FGFR1 | >30 | T-LBL/T-lymphoma | Lymphadenopathy, hepatosplenomegaly, eosinophilia or monocytosis or both | Insensitive1 | 7,Remission;2,Recurrence | Sensitive (imatinib, MIDOSTAURIN) |
| FOP1-FGFR1 | 5 | MPD, AML, B-ALL | Polycythemia without eosinophilia | Sensitive | No | Not tested |
| CEP110-FGFR1 | >20 | AML, T-LBL | Lymphadenopathy, purpura, skin lesions, eosinophilia and monocytosis | Insensitive | 7,Remission;1,Recurrence | Sensitive (imatinib, dasatinib, pemigatinib) |
| HERVK-FGFR1 | 2 | AML, SM-AHNMD | Polycythemia, poikilocyte, granulocytosis, abnormal megakaryocytes | Insensitive | 1;Remission | Not tested |
| BCR-FGFR1 | >30 | CML, aCML, AML, B-ALL | Splenomegaly, eosinophilia | Insensitive | 4,Remission;3,Recurrence | Insensitive (imatinib, dasatinib), Sensitive (ponatinib, pemigatinib) |
| NUP98-FGFR1 | 2 | therapeutic AMML | Granulocyte hyperplasia with mononucleosis | Not tests | No | Not tested |
| FOP2-FGFR1 | 2 | T-LBL, AML | Lymphadenopathy, eosinophilia | Sensitive2 | No | Not tested |
| TIF1-FGFR1 | 5 | CEL, AMML | Eosinophilia | Resistant3 | No | Not tested |
| MYO18A-FGFR1 | 2 | CML | Thrombocytopenia, monocyte, eosinophilic and basophil increased | Resistant | No | Not tested |
| CPSF6-FGFR1 | 1 | Not reported | Lymphadenopathy and splenomegaly, neutrophils without eosinophilia | Resistant | No | Not tested |
| LRRFIP1-FGFR1 | 1 | MDS, AML | Pancytopenia, eosinophilia | Not tests | No | Not tested |
| CUX1-FGFR1 | 1 | pre-T-LBL | Neutrophils, lymphocytes and monocytes increased without eosinophils | Resistant | No | Not tested |
| TPR-FGFR1 | 4 | AMML, AML-M5 | Lymphadenopathy, increasing monocytes | Insensitive | 1;Remission | Not tested |
| NUP358-FGFR1 | 2 | MDS | Splenomegaly, a little eosinophilia | Sensitive | No | Not tested |
| SQSTM1-FGFR1 | 1 | AMML | Neutrophils and monocytes increased, megakaryocytes | Not tests | No | Not tested |
| TFG-FGFR1 | 1 | AML | Skin ecchymosis and splenomegaly, eosinophilia | Insensitive | No | Resistant (ponatinib) |
| HOOK3-FGFR1 | 1 | MDS | Leukocytosis and thrombocytopenia. | Insensitive | No | Resistant (ponatinib) |
The responsiveness to the TKIs and chemotherapy are based on the very few studies that have been reported so far; thus, the data included are not definitive. Addtionally, in many cases, the TKIs were used in conjunction with other chemotherapy or allo-SCT agents.