Abstract
A 28-year-old man with marked eosinophilia is described. FIP1L1/PDGFRA mRNA showed multiple alternatively-spliced fusion transcripts. Sequencing analysis showed that the deduced DNA breakpoints were intron 10 in the FIP1L1 gene and exon 12 in the PDGFRA gene. Then, a diagnosis of chronic eosinophilic leukemia (CEL) was made. Whereas the response to the treatments with prednisolone and hydroxyurea were unsatisfactory, treatment with imatinib showed a rapid decrease of eosinophils. The hemoglobin level also dropped and bone marrow examination showed pure red cell aplasia. Continued administration of very low dose imatinib (100 mg every 5 days) led to and maintained complete molecular remission, with good tolerability.
MeSH terms
-
Adult
-
Benzamides
-
Chronic Disease
-
Humans
-
Hypereosinophilic Syndrome / complications
-
Hypereosinophilic Syndrome / drug therapy
-
Hypereosinophilic Syndrome / genetics*
-
Imatinib Mesylate
-
Male
-
Oncogene Proteins, Fusion / biosynthesis*
-
Oncogene Proteins, Fusion / genetics
-
Piperazines / therapeutic use*
-
Pyrimidines / therapeutic use*
-
Receptor, Platelet-Derived Growth Factor alpha / biosynthesis*
-
Receptor, Platelet-Derived Growth Factor alpha / genetics
-
Red-Cell Aplasia, Pure / drug therapy
-
Red-Cell Aplasia, Pure / etiology
-
Red-Cell Aplasia, Pure / genetics*
-
mRNA Cleavage and Polyadenylation Factors / biosynthesis*
-
mRNA Cleavage and Polyadenylation Factors / genetics
Substances
-
Benzamides
-
FIP1L1 protein, human
-
Oncogene Proteins, Fusion
-
Piperazines
-
Pyrimidines
-
mRNA Cleavage and Polyadenylation Factors
-
Imatinib Mesylate
-
FIP1L1-PDGFRA fusion protein, human
-
Receptor, Platelet-Derived Growth Factor alpha