Title: KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32)
Authors: Levine, R L
Wadleigh, M
Sternberg, D W
Wlodarska, Iwona
Galinsky, I
Stone, R M
DeAngelo, D J
Gilliland, D Gary
Cools, Jan # ×
Issue Date: Dec-2004
Publisher: Stockton Press
Series Title: Leukemia vol:19 issue:1 pages:27-30
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-PDGFRbeta fusion protein contains the KIAA1509 coiled-coil domain fused to the cytoplasmic domain of PDGFRbeta 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.
ISSN: 0887-6924
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Laboratory for Genetics of Malignant Disorders
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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