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ETV6/PDGFRß fusion gene, t(5;12)(q33;p13)

Since the identification of fusion gene PDGFRß-ETV6 in Chronic myeloid leukemia with prominent eosinophilia or chronic eosinophilic leukemia (CEL) patients with t(5;12)(q33;p13),  17 additional patterns for PDGFRß fusion gene have been identified. In spite of the molecular diversity, most of these patients are characterized by the presence of eosinophilia. Many cases in hypereosinophilic syndrome, previously considered idiopathic, may be classified as clonal myeloid malignancies caused by abnormal tyrosine kinase receptors (such as PDGFRA, PDGFRB and FRGFR1). Myeloid and lymphoid neoplasms with PDGFRß rearrangements are myeloid malignancies with prominent eosionifilia and increased presence of mast cells and t(5;12)(q31-q33;p12) translocation or other PDGFRß gene variants.

Cases with positive PDGFRα and PDGFRß rearrangements respond to treatment with tyrosine kinase inhibitors (imatinib).


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