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KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32)

Leukemia volume 19, pages 27–30 (2005)Cite this article

Abstract

We report the cloning of a novel PDGFRB fusion gene partner in a patient with a chronic myeloproliferative disorder characterized by t(5;14)(q33;q32), who responded to treatment with imatinib mesylate. Fluorescence in situ hybridization demonstrated that PDGFRB was involved in the translocation. Long distance inversion PCR identified KIAA1509 as the PDGFRB fusion partner. KIAA1509 is an uncharacterized gene with a predicted coiled-coil oligomerization domain with homology to the HOOK family of proteins. The predicted KIAA1509-PDGFRβ fusion protein contains the KIAA1509 coiled-coil domain fused to the cytoplasmic domain of PDGFRβ that includes the tyrosine kinase domain. Imatinib therapy resulted in rapid normalization of the patient's blood counts, and subsequent bone marrow biopsies and karyotypic analysis were consistent with sustained complete remission.

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Acknowledgements

This paper was supported in part by National Institute of Health Grants DK50654 and CA66996 to DGG, Grant CA82261 to DWS, and by the Leukemia and Lymphoma Society. DGG is a Doris Duke Foundation Distinguished Clinical Scientist and an Investigator of the Howard Hughes Medical Institute. JC is a postdoctoral researcher of the ‘FWO-Vlaanderen’.

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Author notes

  1. R L Levine and M Wadleigh: These authors contributed equally to this work.

Authors and Affiliations

  1. Division of Hematology, Brigham and Women's Hospital and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA

    R L Levine & D Gary Gilliland

  2. Division of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA

    R L Levine, M Wadleigh, I Galinsky, R M Stone & D J DeAngelo

  3. Division of Hematology/Oncology, Mount Sinai School of Medicine, New York, NY, USA

    D W Sternberg

  4. Department of Human Genetics – Flanders Interuniversity Institute for Biotechnology (VIB), University of Leuven, Leuven, Belgium

    I Wlodarska & J Cools

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  1. R L Levine
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Correspondence to D Gary Gilliland.

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Levine, R., Wadleigh, M., Sternberg, D. et al. KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). Leukemia 19, 27–30 (2005). https://doi.org/10.1038/sj.leu.2403548

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