Novel t(5;11)(q32;q13.4) with NUMA1-PDGFRB fusion in a myeloid neoplasm with eosinophilia with response to imatinib mesylate
作者： Ying S. Zou , Nicole L. Hoppman , Zeba N. Singh , Sameer Sawhney , Sandy D. Kotiah
DOI: 10.1016/J.CANCERGEN.2017.03.004
关键词:
摘要: We report a NUMA1-PDGFRB fusion in myeloproliferative neoplasm with eosinophilia 61-year old man, response to imatinib mesylate therapy. A t(5;11) chromosome translocation involving bands 5q32 and 11q13.4 was identified by metaphase analysis, rearrangement of the platelet-derived growth factor receptor beta (PDGFRB) gene on demonstrated FISH using PDGFRB break-apart probe set. Bacterial artificial (BAC) mapping partner narrowed breakpoint at 150 kb genomic region containing three genes, including NUMA1. Mate pair sequencing analysis fusion. The protein includes coiled-coil domains nuclear mitotic apparatus 1 (NuMA1, involved homodimerization heteroassociation) tyrosine kinase PDGFRB. Diverse rearrangements have been myeloid lymphoid neoplasms eosinophilia, but (NUMA1) has previously reported human malignancy only one instance, NUMA1-RARA caused t(11;17) patient acute promyelocytic leukemia. is second instance NUMA1, encoding an element apparatus, cancer.
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