Cloning of the t(1;5)(q23;q33) in a Myeloproliferative Disorder associated with Eosinophilia: Involvement of PDGFRB and Response to Imatinib Short Title: Imatinib in MPD with t(1;5) and novel PDGFRB fusion
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Cloning of the t(1;5)(q23;q33) in a myeloproliferative disorder associated with eosinophilia: involvement of PDGFRB and response to imatinib.
Eosinophilia is common in myeloproliferative disorders (MPDs) with abnormalities of chromosome band 5q31-33, including those that present with t(1;5)(q23;q33). With the development of rational drug therapy, characterization of the molecular targets for these translocations could guide treatment and affect patient survival. We cloned the t(1;5)(q23;q33) and showed that it fuses platelet-derived ...
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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...
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Various translocations involving the PDGFRB gene are identified in myeloid neoplasms. However, the PRKG2/PDGFRB fusion gene associated with t(4;5)(q21;q33) has previously been reported in only 3 patients. We present the case of a 26-year-old woman with microcytic anemia, basophilia, thrombocytosis, and massive splenomegaly, who was found to have systemic mastocytosis and associated clonal hemat...
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The 2008 WHO classification scheme of hematolymphoid neoplasms recognizes a category of myeloid and lymphoid neoplasms (MLNs) with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1. The postulated cell of origin for PDGFRA or FGFR1-rearranged diseases is a pluripotent progenitor capable of giving rise to myeloid neoplasms (myeloproliferative neoplasms and acute leukemias) and to lympho...
متن کاملCongenital and childhood myeloproliferative disorders with eosinophilia responsive to imatinib.
Eosinophilia is seen in several myeloproliferative disorders (MPD). A subset of MPD involves the platelet-derived growth factor receptor beta (PDGFRB) gene. Imatinib mesylate has been efficacious in treating some of these MPDs. Here we describe two patients with MPD with eosinophilia and PDGFRB rearrangements, one of which was congenital. Both patients were treated with single agent imatinib an...
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تاریخ انتشار 2003