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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

2016-09-01 20:09:26

Hindawi Journals; 1 September 2016: DOI:10.1155/2016/8324791

Javier De Luca-Johnson, Jose I. Ruades Ninfea, Lauren Pearson, Joanna Conant, Ronald Bryant, Neil A. Zakai and Mary E. Tang



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.



Introduction


We report the second case of ETV6-ACSL6 associated myeloproliferativeneoplasm that has failed a complete course of imatinib therapy and review the literature on this abnormality. ETV6-ACSL6 fusion is a rare abnormality that is
associated with myeloproliferative disorders, myelodysplasia, or acute myeloid leukemia with eosinophilia or basophilia. The ETV6-ACSL6 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. Evidence has shown sustained clinical response, molecular remission, and low toxicity profile with imatinib treatment in patients harboring PDGFRB rearrangement but there is little information on imatinib efficacy in patients with ETV6-ACSL6 gene fusion.



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Empire Genomics ACSL6 probe was used in this publication.