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Myeloproliferative variant of the hypereosinophilic syndrome
One of three myeloproliferative and lymphoidneoplasms associated with rearrangement of PDGFRA, PDGFRB and FGFR1. All result from formation of a fusion gene encoding an aberrant tyrosinekinase.
This disease is associated with PDGFRA rearrangement that is associated with FIP1L1-PDGFRA formed as a result of a cryptic deletion at 4q12.
Presentation is generally as chronic eosinophilic leukemia (CEL) but can be acute myeloidleukemia (AML) as well.