RGD Reference Report - TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes. - Rat Genome Database

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TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes.

Authors: Wang, J  Ai, X  Gale, RP  Xu, Z  Qin, T  Fang, L  Zhang, H  Pan, L  Hu, N  Zhang, Y  Xiao, Z 
Citation: Wang J, etal., Leuk Res. 2013 Mar;37(3):305-11. doi: 10.1016/j.leukres.2012.10.004. Epub 2012 Oct 23.
RGD ID: 10450876
Pubmed: PMID:23099237   (View Abstract at PubMed)
DOI: DOI:10.1016/j.leukres.2012.10.004   (Journal Full-text)

Somatic mutations of epigenetic gene regulators are common in patients with myelodysplastic syndromes (MDS) and correlate with some clinical and laboratory features. We studied mutations in TET2, ASXL1 and EZH2 in 153 Chinese patients with MDS. TET2 mutations were detected in 35 patients (23%), ASXL1 in 33 patients (22%) and EZH2 in 8 (5%). ASXL1 mutations were associated with increased colony formation of BFU-E, CFU-E and CFU-GM (P-values, 0.049, 0.011 and 0.006). EZH2 mutations were common in patients with poor IPSS cytogenetics (P=0.001) and in patients in the IPSS intermediate-2/high-risk cohorts (P=0.06). In uni- but not multi-variate analyses, mutated TET2 was associated with longer survival (P=0.044) whereas EZH2 mutations were associated with an increased risk of transformation to acute myeloid leukemia (AML; P=0.039). These data suggest ASXL1 mutations might results in dominance of the mutant clone in Chinese with MDS whereas EZH2 mutations might predict an increased risk of transformation to AML.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
EZH2Humanacute myeloid leukemia susceptibilityIAGP DNA:mutations:cds:multiple (human)RGD 
Ezh2Mouseacute myeloid leukemia susceptibilityISOEZH2 (Homo sapiens)DNA:mutations:cds:multiple (human)RGD 
Ezh2Ratacute myeloid leukemia susceptibilityISOEZH2 (Homo sapiens)DNA:mutations:cds:multiple (human)RGD 
ASXL1Humanmyelodysplastic syndrome  IDA DNA:mutations:cds:RGD 
Asxl1Mousemyelodysplastic syndrome  ISOASXL1 (Homo sapiens)DNA:mutations:cds:RGD 
Asxl1Ratmyelodysplastic syndrome  ISOASXL1 (Homo sapiens)DNA:mutations:cds:RGD 
TET2Humanmyelodysplastic syndrome severityIAGP DNA:mutations:multipleRGD 
Tet2Ratmyelodysplastic syndrome severityISOTET2 (Homo sapiens)DNA:mutations:multipleRGD 
Tet2Mousemyelodysplastic syndrome severityISOTET2 (Homo sapiens)DNA:mutations:multipleRGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TET2HumanMyelodysplasia severityIAGP DNA:mutations:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Asxl1  (ASXL transcriptional regulator 1)
Ezh2  (enhancer of zeste 2 polycomb repressive complex 2 subunit)
Tet2  (tet methylcytosine dioxygenase 2)

Genes (Mus musculus)
Asxl1  (ASXL transcriptional regulator 1)
Ezh2  (enhancer of zeste 2 polycomb repressive complex 2 subunit)
Tet2  (tet methylcytosine dioxygenase 2)

Genes (Homo sapiens)
ASXL1  (ASXL transcriptional regulator 1)
EZH2  (enhancer of zeste 2 polycomb repressive complex 2 subunit)
TET2  (tet methylcytosine dioxygenase 2)


Additional Information