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急性骨髄性白血病の進行とともに認められたPDGFRβ遺伝子と新規遺伝子CEV14の融合：安部明弘,久野由恵, 恵美宣彦, 谷本光音, 齋藤英彦 (名大一内)

Fusion of the PDGF receptor beta to a novel gene CEV14 in acute myelogenous leukemia after clonal evolution : Akihiro ABE, Yoshie KUNO, Nobuhiko EMI, Mitsune TANIMOTO, Hidehiko SAITO (First Dept., Int. Med., Nagoya Univ. )

Chromosomal translocations involving band 5q31-35 occur in several hematologic disorders. A clone with a t(5;14)(q33;q32) translocation appeared at the relapse phase in a patient with acute myelogenous leukemia who exhibited a sole chromosomal translocation, t(7;11), at initial diagnosis. Following the appearance of this clone, the leukemia progressed with marked eosinophilia, and combination chemotherapy was ineffective. Southern blot analysis revealed a rearrangement of the PDGFRβ gene at 5q33 which was not observed at initial diagnosis. This translocation resulted in a chimeric transcript fusing the platelet derived growth factor β receptor gene on 5q33 with a novel gene, CEV14 (Clonal evolution related gene on chromosome 14), located at 14q32. Expression of the 5' region of the PDGFRβ cDNA, upstream of the breakpoint, was not detected. However, the 3' region of PDGFRβ which was transcribed as part of the CEV14-PDGFRβ fusion gene was detected. The novel gene, CEV14, includes a leucine zipper motif and putative thyroid hormone receptor interacting domain and is expressed in a wide range of tissues. Recently, CEV14 was appeared to be the same gene with Trip230 which was isolated as a RB binding protein. The expression of a CEV14-PDGFRβ fusion gene in association with aggressive leukemia progression suggests that this protein has oncogenic potential.