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1 Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto di Ricovero e Cura a Carattere Scientifico Istituto G. Gaslini, Genova; 2 Oncoematologia Pediatrica, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Pavia; and 3 Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università dellInsubria, Varese, Italy
PDGFRB, a transmembrane tyrosine kinase receptor for plateletderived growth factor, is constitutively activated by gene fusion with different partners in myeloproliferative/myelodysplastic disorders with peculiar clinical characteristics. Six alternative partner genes have been described thus far. In this study, we report the molecular cloning of a novel translocation t(5;17)(q33;p11.2) in a case of juvenile myelomonocytic leukemia. The novel partner gene was identified as HCMOGT-1 using 5'-rapid amplification of cDNA ends; fluorescence in situ hybridization and reverse transcriptase-PCR analyses confirmed that the translocation resulted in PDGFRB/HCMOGT-1 fusion. We show that the breakpoint of PDGFRB occurred at the same site of all previously reported PDGFRB translocations.
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