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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2004-10-21

AUTHORS

R L Levine, M Wadleigh, D W Sternberg, I Wlodarska, I Galinsky, R M Stone, D J DeAngelo, D Gary Gilliland, J Cools

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. More... »

PAGES

27-30

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.leu.2403548

DOI

http://dx.doi.org/10.1038/sj.leu.2403548

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039462927

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/15496975


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