RGD Reference Report - Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes. - Rat Genome Database

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Ten-eleven-translocation 2 (TET2) is downregulated in myelodysplastic syndromes.

Authors: Scopim-Ribeiro, R  Machado-Neto, JA  Campos Pde, M  Silva, CA  Favaro, P  Lorand-Metze, I  Costa, FF  Saad, ST  Traina, F 
Citation: Scopim-Ribeiro R, etal., Eur J Haematol. 2015 May;94(5):413-8. doi: 10.1111/ejh.12445. Epub 2014 Oct 1.
RGD ID: 11038682
Pubmed: PMID:25200248   (View Abstract at PubMed)
DOI: DOI:10.1111/ejh.12445   (Journal Full-text)

TET2, a member of the ten-eleven-translocation (TET) family genes that modify DNA by converting 5-methylcytosine (5-mC) to 5-hydroxymethylcytosine (5-hmC), is located in chromosome 4q24 and is frequently mutated in myeloid malignancies. The impact of TET2 mutation on survival outcomes is still controversial; however, functional studies have proved that it is a loss-of-function mutation that impairs myeloid cell differentiation and contributes to the phenotype of myeloid neoplasia. We, herein, aimed to investigate TET2 expression in patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML). A significantly decreased TET2 expression was observed in bone marrow cells from AML (n = 53) and patients with MDS (n = 64), compared to normal donors (n = 22). In MDS, TET2 expression was significantly reduced in RAEB-1/RAEB-2 compared to other WHO 2008 classifications, and a lower TET2 expression was observed at the time of MDS disease progression in four of five patients. In multivariate analysis, low TET2 expression (P = 0.03), male gender (P = 0.02), and WHO 2008 classification (P < 0.0001) were independent predictors of poorer overall survival. These results suggest that defective TET2 expression plays a role in the MDS pathophysiology and predicts survival outcomes in this disease.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute myeloid leukemia disease_progressionIEP 11038682 RGD 
acute myeloid leukemia disease_progressionISOTET2 (Homo sapiens)11038682; 11038682 RGD 
Refractory Anemia with Excess of Blasts disease_progressionIEP 11038682 RGD 
Refractory Anemia with Excess of Blasts disease_progressionISOTET2 (Homo sapiens)11038682; 11038682 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tet2  (tet methylcytosine dioxygenase 2)

Genes (Mus musculus)
Tet2  (tet methylcytosine dioxygenase 2)

Genes (Homo sapiens)
TET2  (tet methylcytosine dioxygenase 2)


Additional Information