H2AFY is a novel fusion partner of MECOM in acute myeloid leukemia

Abstract

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.

The Capacity of Long-Term In Vitro Proliferation of Acute Myeloid Leukemia Cells Supported Only by Exogenous Cytokines Is Associated with a Patient Subset with Adverse Outcome

“…The encoded proteins fulfil a wide range of functions with signaling (7 genes), transcription (8 genes) and metabolism (10 genes) being the most prominent (Supplementary Table S9). Five of these genes have been studied in AML (see [16,18,19,20,21,22]).…”

The diagnostic and prognostic value of H2AFY in hepatocellular carcinoma

“…For example, H2AFY has a significant correlation with lipid metabolism-related HCC (40), as it can also alter the lipid metabolism of HCC cells and allow tumour cells to be more adaptable to the changing microenvironment (23). Some evidence indicates that H2AFY is a new fusion gene companion for MECOM gene in patients with AML and may promote the development of AML, but the exact mechanism is unclear (28). H2AFY has also been reported in melanoma, prostate cancer and colorectal cancer (26,29,30).…”

The diagnostic and prognostic value of H2AFY in hepatocellular carcinoma

“…In recent years, more and more studies have shown that H2AFY is differentially expressed and plays corresponding biological functions in multiple tumour types, including HCC, lung cancer, prostate cancer, acute myeloid leukaemia (AML), melanoma, and colon cancer (15,(26)(27)(28)(29)(30). According to previously published studies, the role of H2AFY in tumours is very complex and it is very challenging to study H2AFY in tumours.…”

“…is a new fusion gene companion for MECOM gene in patients with AML and may promote the development of AML, but the exact mechanism is unclear (28). H2AFY has also been reported in melanoma, prostate cancer and colorectal cancer (26,29,30).…”