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Case Reports in Medicine
Volume 2016 (2016), Article ID 8324791, 4 pages
http://dx.doi.org/10.1155/2016/8324791
Case Report

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

1Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, 89 Beaumont Avenue, Courtyard at Given S269, Burlington, VT 05405, USA
2Department of Medicine, Division of Hematology and Oncology, University of Vermont Medical Center, 89 Beaumont Avenue, Given E-214-UVM363, Burlington, VT 05405, USA

Received 19 July 2016; Accepted 1 September 2016

Academic Editor: Ting Fan Leung

Copyright © 2016 Javier De Luca-Johnson et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. David, N. C. P. Cross, S. Burgstaller et al., “Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders,” Blood, vol. 109, no. 1, pp. 61–64, 2007. View at Publisher · View at Google Scholar · View at Scopus
  2. F. Yagasaki, I. Jinnai, S. Yoshida et al., “Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13),” Genes Chromosomes & Cancer, vol. 26, no. 3, pp. 192–202, 1999. View at Publisher · View at Google Scholar · View at Scopus
  3. J. Cools, N. Mentens, M. D. Odero et al., “Evidence for position effects as a variant ETV6-mediated leukemogenic mechanism in myeloid leukemias with a t(4;12)(q11-q12;p13) or t(5;12)(q31;p13),” Blood, vol. 99, no. 5, pp. 1776–1784, 2002. View at Publisher · View at Google Scholar · View at Scopus
  4. A. Murati, J. Adélaïde, V. Gelsi-Boyer et al., “t(5;12)(q23-31;p13) with ETV6-ACSL6 gene fusion in polycythemia vera,” Leukemia, vol. 20, no. 6, pp. 1175–1178, 2006. View at Publisher · View at Google Scholar · View at Scopus
  5. Y. Katsura, K. Suzukawa, T. Nanmoku et al., “Myelodysplastic syndrome accompanied by basophilia and eosinophilia with t(5;12)(q31;p13),” Cancer Genetics and Cytogenetics, vol. 178, no. 1, pp. 85–88, 2007. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Erben, D. Gosenca, M. C. Müller et al., “Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis,” Haematologica, vol. 95, no. 5, pp. 738–744, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. C. Haferlach, U. Bacher, S. Schnittger et al., “ETV6 rearrangements are recurrent in myeloid malignancies and are frequently associated with other genetic events,” Genes Chromosomes and Cancer, vol. 51, no. 4, pp. 328–337, 2012. View at Publisher · View at Google Scholar · View at Scopus
  8. R. J. Su, B. A. Jonas, J. Welborn, J. P. Gregg, and M. Chen, “Chronic eosinophilic leukemia, NOS with t(5;12)(q31;p13)/ETV6-ACSL6 gene fusion: a novel variant of myeloid proliferative neoplasm with eosinophilia,” Human Pathology: Case Reports, vol. 5, pp. 6–9, 2016. View at Publisher · View at Google Scholar
  9. X. Han, L. J. Medeiros, L. V. Abruzzo, D. Jones, and P. Lin, “Chronic myeloproliferative diseases with the t(5;12)(q33;p13): clonal evolution is associated with blast crisis,” American Journal of Clinical Pathology, vol. 125, no. 1, pp. 49–56, 2006. View at Publisher · View at Google Scholar · View at Scopus
  10. G. Tang, L. J. Woods, S. A. Wang et al., “Chronic basophilic leukemia: a rare form of chronic myeloproliferative neoplasm,” Human Pathology, vol. 40, no. 8, pp. 1194–1199, 2009. View at Publisher · View at Google Scholar · View at Scopus
  11. K. T. Malhotra, K. Malhotra, B. H. Lubin, and F. A. Kuypers, “Identification and molecular characterization of acyl-CoA synthetase in human erythrocytes and erythroid precursors,” Biochemical Journal, vol. 344, no. 1, pp. 135–143, 1999. View at Publisher · View at Google Scholar · View at Scopus
  12. The GeneCards Human Gene Database, Weizmann Institute of Science, http://www.genecards.org/cgi-bin/carddisp.pl?gene=acsl6.
  13. S. Esnault, E. A. B. Kelly, Z.-J. Shen, M. W. Johansson, J. S. Malter, and N. N. Jarjour, “IL-3 maintains activation of the p90S6K/RPS6 pathway and increases translation in human eosinophils,” The Journal of Immunology, vol. 195, no. 6, pp. 2529–2539, 2015. View at Publisher · View at Google Scholar · View at Scopus
  14. A. Y. Lin, T. B. Nutman, D. Kaslow et al., “Familial eosinophilia: clinical and laboratory results on a U.S. Kindred,” American Journal of Medical Genetics, vol. 76, no. 3, pp. 229–237, 1998. View at Google Scholar · View at Scopus
  15. J. D. Rioux, V. A. Stone, M. J. Daly et al., “Familial eosinophilia maps to the cytokine gene cluster on human chromosomal region 5q31-q33,” The American Journal of Human Genetics, vol. 63, no. 4, pp. 1086–1094, 1998. View at Publisher · View at Google Scholar · View at Scopus
  16. P. U. Ogbogu, B. S. Bochner, J. H. Butterfield et al., “Hypereosinophilic syndrome: a multicenter, retrospective analysis of clinical characteristics and response to therapy,” Journal of Allergy and Clinical Immunology, vol. 124, no. 6, pp. 1319.e3–1325.e3, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. M. E. Rothenberg, A. D. Klion, F. E. Roufosse et al., “Treatment of patients with the hypereosinophilic syndrome with mepolizumab,” The New England Journal of Medicine, vol. 358, no. 12, pp. 1215–1228, 2008. View at Publisher · View at Google Scholar · View at Scopus
  18. P. Strati, J. Cortes, S. Faderl, H. Kantarjian, and S. Verstovsek, “Long-term follow-up of patients with hypereosinophilic syndrome treated with alemtuzumab, an anti-CD52 antibody,” Clinical Lymphoma, Myeloma and Leukemia, vol. 13, no. 3, pp. 287–291, 2013. View at Publisher · View at Google Scholar · View at Scopus
  19. G. Helbig, A. Soja, A. Bartkowska-Chrobok, and S. Kyrcz-Krzemień, “Chronic eosinophilic leukemia-not otherwise specified has a poor prognosis with unresponsiveness to conventional treatment and high risk of acute transformation,” American Journal of Hematology, vol. 87, no. 6, pp. 643–645, 2012. View at Publisher · View at Google Scholar · View at Scopus