title: Myeloid Neoplasms with t(5;12) and ETV6-ACSL6 Gene Fusion, Potential Mimickers of Myeloid Neoplasm with PDGFRB Rearrangement: Case Report with Imatinib Therapy and Review of the Literature.
abstract: We report the second case of ETV6-ACSL6 associated myeloproliferative neoplasm that has received a full course of imatinib therapy. The patient was a 51-year-old previously healthy man who presented with three months of worsening dyspnea and was found to have a white count of 216,000/cmm, of which 84% were eosinophil lineage. Cytogenetic analysis revealed a t(5;12)(q31~33;p13). FISH was negative for PDGFRB rearrangement but additional FISH testing demonstrated an ACSL6 rearrangement. ETV6-ACSL6 gene fusion is a rare abnormality that most often presents as a myeloproliferative-type disorder with prominent eosinophilia or basophilia. Review of the literature yielded a total of 11 previous cases. This gene fusion results in a t(5;12)(q31~33;p13) that mimics the t(5;12) found in ETV6-PDGFRB neoplasms. Identification of the fusion genes involved in t(5;12) in eosinophilia-associated myeloproliferative disorders is crucial to direct an effective treatment plan. In particular, while tyrosine kinase inhibitor therapy is effective in patients with PDGFRB rearrangement, there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion. Our patient was found to be nonresponsive to imatinib therapy.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA.
authors.forename: Javier
authors.identifier: 0000-0003-2167-8710
authors.initials: J
authors.lastname: De Luca-Johnson
authors.affiliation: Department of Medicine, Division of Hematology and Oncology, University of Vermont Medical Center, 89 Beaumont Avenue, Given E-214-UVM363, Burlington, VT 05405, USA.
authors.forename: Jose I Ruades
authors.initials: JI
authors.lastname: Ninfea
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA.
authors.forename: Lauren
authors.initials: L
authors.lastname: Pearson
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA.
authors.forename: Joanna
authors.initials: J
authors.lastname: Conant
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA.
authors.forename: Ronald
authors.initials: R
authors.lastname: Bryant
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA; Department of Medicine, Division of Hematology and Oncology, University of Vermont Medical Center, 89 Beaumont Avenue, Given E-214-UVM363, Burlington, VT 05405, USA.
authors.forename: Neil A
authors.initials: NA
authors.lastname: Zakai
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Tang