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Chronic idiopathic myelofibrosis expressing a novel type of TEL-PDGFRB chimaera responded to imatinib mesylate therapy

Leukemia volume 21, pages 190–192 (2007)Cite this article

A Corrigendum to this article was published on 12 March 2008

Constitutive activation of platelet-derived growth factor receptor (PDGFR) is one of the features of myeloproliferative disease (MPD).1 PDGFR is a member of type III receptor tyrosine kinase that transmits mitotic signals in cells of mesenchymal origin. Both PDGFRA and PDGFRB genes, located on chromosomes 4q12 and 5q33 respectively, form fusion gene as a result of chromosome translocation. Representative examples are TEL-PDGFRB in t(5;12)(q33;p13)2 and FIP1L1-PDGFRA in del(4)(q12),3 both of the gene products known to have ligand-independent kinase activity. The former is observed in chronic myelomonocytic leukaemia (CMMoL) as well as other MPDs with eosinophilia, whereas the latter has been reported in hypereosinophilic syndrome (HES).

We report here a case of chronic idiopathic myelofibrosis (CIMF) with t(5;12)(q33;p13), which transformed to acute myelogenous leukaemia (AML). This case is unique in two aspects: (1) this is the first report of CIMF with TEL-PDGFRB fusion and (2) a novel type of TEL-PDGFRB fusion transcript that retained the internal and ETS domains of TEL was expressed. The leukaemic cells responded well to a series of chemotherapy, which was followed by administration of imatinib mesylate, a kinase inhibitor for both PDGFR and ABL. It gave a partial cytogenetic response but failed to maintain a remission of leukaemia. This case implies the existence of various types of TEL-PDGFRB fusion gene with possible impact on the phenotype of the disease.

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  1. Department of Hematology, Dokkyo Medical University School of Medicine, Shimotsuga-gun, Tochigi, Japan

    K Tokita, K Maki, J Tadokoro, Y Nakamura, Y Arai, K Sasaki, M Eguchi-Ishimae, M Eguchi & K Mitani

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  1. K Tokita
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  2. K Maki
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Correspondence to K Mitani.

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Tokita, K., Maki, K., Tadokoro, J. et al. Chronic idiopathic myelofibrosis expressing a novel type of TEL-PDGFRB chimaera responded to imatinib mesylate therapy. Leukemia 21, 190–192 (2007). https://doi.org/10.1038/sj.leu.2404397

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