Myeloid neoplasms with t

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 8...

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Bibliographic Details
Published inCase reports in medicine
Main Authors Zakai, Neil A, Ninfea, Jose I. Ruades, Bryant, Ronald, Conant, Joanna, Pearson, Lauren, De Luca-Johnson, Javier, Tang, Mary E
Format Journal Article
LanguageEnglish
Published John Wiley & Sons, Inc 01.01.2016
Subjects
Case studies
Complications and side effects
Diagnosis
Drug therapy
Genetic aspects
Myelocytic leukemia
Nonlymphoid leukemia
Physiological aspects
Platelet-derived growth factor
United States
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Summary: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. ETV6ACSL6 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.
ISSN:1687-9627