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Soon after admission, with the presumptive diagnosis of myeloid neoplasm with PDGFRB rearrangement, the patient was started on imatinib 200 mg/day.
Unlike BCR-ABL1, PDGFRA, and PDGFRB, the ETV6-ACSL6 gene fusion does not result in a fusion protein with constitutive tyrosine kinase activity.
While evidence has shown sustained clinical response, molecular remission, and low toxicity profile with imatinib treatment in patients harboring PDGFRB rearrangement [1], there is no evidence for imatinib efficacy in patients with ETV6-ACSL6 gene fusion.
Patients presenting with eosinophilia-associated myeloproliferative neoplasm who lack overexpression of PDGFRA or PDGFRB have been imatinib-responsive [6], emphasizing that it is reasonable to begin a therapeutic trial with tyrosine kinase inhibitors in symptomatic patients pending further gene fusion characterization.
The most common PDGFRB rearrangement associated with myeloid neoplasia is t(5; 12)(q33; p13); ETV6-PDGFRB, but more than 20 different PDGFRB translocations have been described.
In addition to PDGFRA, PDGFRB, and FGFR1 gene rearrangements, rearrangements of the JAK2 and FLT3 genes have been associated with eosinophilic myeloid neoplasms.
Cultured bone marrow is usually superior to peripheral blood for cytogenetic analysis, and the bone marrow karyotype is helpful to identify translocations of PDGFRB, JAK2, FGFR1, and FLT3, as well as clonal abnormalities that could establish a diagnosis of CEL, NOS, in the appropriate context.
No se encontro casos de leucemia eosinofilica cronica, ni neoplasias asociadas a las mutaciones PDGFRA, PDGFRB y FGFR1 (Tabla 1).
Los pacientes que se presentan con signos y sintomas de sindrome hipereosinofilico pueden caer en una de cuatro clasificaciones propuestas por la OMS: neoplasias mieloproliferativas/SHE, sindrome mieloproliferativo/leucemia eosinofilica cronica, neoplasias mieloides asociadas con eosinofilia y anormalidades del PDGFRA, PDGFRB o FGFR1 y neoplasia/linfoma T no clasificable.
65) This disorder is variably known as chronic eosinophilic leukemia or myeloproliferative HES, among other names, but is recognized in the 2008 WHO classification as myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1.
PDGFRB translocations involve rearrangements between chromosome 5 and a number of partner chromosomes.
74) Although mechanistically similar to eosinophilic leukemias with PDGFRA and PDGFRB translocations (and grouped with these disorders in the WHO classification), neoplasms associated with FGFR1 translocations have several distinct clinical features.