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[Cancer Research 64, 2673-2676, April 15, 2004]
© 2004 American Association for Cancer Research


Advances in Brief

NIN, a Gene Encoding a CEP110-Like Centrosomal Protein, Is Fused to PDGFRB in a Patient with a t(5;14)(q33;q24) and an Imatinib-Responsive Myeloproliferative Disorder1

José L. Vizmanos1, Francisco J. Novo1, José P. Román1, E. Joanna Baxter2, Idoya Lahortiga1, María J. Larráyoz1, María D. Odero1, Pilar Giraldo3, María J. Calasanz1 and Nicholas C. P. Cross2

1 Department of Genetics, University of Navarra, Pamplona, Spain; 2 Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Southampton, United Kingdom; and 3 Haematology Service, Miguel Servet Hospital, Zaragoza, Spain

We describe a new PDGFRB fusion associated with a t(5;14)(q33;q24) in a patient with a longstanding chronic myeloproliferative disorder with eosinophilia. After confirmation of PDGFRB involvement and definition of the chromosome 14 breakpoint by fluorescence in situ hybridization, candidate partner genes were selected on the basis of the presence of predicted oligomerization domains believed to be an essential feature of tyrosine kinase fusion proteins. We demonstrate that the t(5;14) fuses PDGFRB to NIN, a gene encoding a centrosomal protein with CEP110-like function. After treatment with imatinib, the patient achieved hematological and cytogenetical remission, but NIN-PDGFRB mRNA remained detectable by reverse transcription-PCR.




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Molecular Cancer Research Cancer Prevention Research
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Copyright © 2004 by the American Association for Cancer Research.