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Case Reports
. 2018 Apr;222-223:9-12.
doi: 10.1016/j.cancergen.2018.01.004. Epub 2018 Feb 17.

H2AFY Is a Novel Fusion Partner of MECOM in Acute Myeloid Leukemia

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Case Reports

H2AFY Is a Novel Fusion Partner of MECOM in Acute Myeloid Leukemia

Qiaoyan Han et al. Cancer Genet. .
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The MECOM gene encoding a zinc finger protein that functions as a transcription factor, was located on chromosome 3q26, and rearrangements of MECOM often cause its overexpression in acute myeloid leukemia (AML). We identified H2AFY as a novel fusion gene partner of MECOM in an elderly male AML patient with cryptic 3q26 rearrangement using the whole transcriptome sequencing, who carried out abnormal karyotype of 46,XY,t(3;5)(q27;q31),add(14)(p11). We validated the existence of the unreported H2AFY-MECOM fusion gene by RT-PCR and Sanger DNA sequencing, and detected mutations of NRAS and BCOR in this patient. In addition, we found abnormally elevated expression of MECOM in this patient by quantitative-polymerase chain reaction (RQ-PCR). Further research is needed to investigate functional characterizations of this novel fusion in the development of AML.

Keywords: Acute myeloid leukemia; H2AFY; MECOM.

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