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Fusion of ETV6 to Fibroblast Growth Factor Receptor 3 in Peripheral T-Cell Lymphoma with a t(4;12)(p16;p13) Chromosomal Translocation¹

First Department of Internal Medicine [F. Y., D. W., Y. U., A. M., M. B.], Chromosome Unit, Central Laboratories [Y. Y.], and Department of Pathology [H. K.], Saitama Medical School, Saitama 350-0495; Department of Medical Technology, Saitama Prefectural University, Saitama [I. M.]; and Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Kyoto [M. T.], Japan

Fusions of the ETV6/TEL gene to receptor or protein tyrosine kinases (TKs), such as PDGFRß, JAK2, ABL, ABL2, TRKC, and Syk, have been reported in various hematological malignancies. Expression of the resultant chimeric proteins is believed to lead to constitutive TK activity through activation by the helix-loop-helix (HLH) domain of ETV6. We identified a novel ETV6 partner gene, fibroblast growth factor receptor 3 (FGFR3), in a patient with peripheral T-cell lymphoma (PTCL) with a t(4;12)(p16;p13) translocation. The ETV6-FGFR3 transcript showed a fusion of exon 5 of ETV6 to exon 10 of FGFR3, resulting in an open reading frame for a chimeric protein consisting of the HLH domain of ETV6 and the TK domains of FGFR3. This is the first report of ETV6 and FGFR3 involvement in PTCL.

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