Low Ten-eleven-translocation 2 (TET2) transcript level is independent of TET2 mutation in patients with myeloid neoplasms

Diagn Pathol. 2016 Mar 16:11:28. doi: 10.1186/s13000-016-0476-4.

Abstract

Background: New sequencing technologies have enabled the identification of mutations in Ten-eleven-translocation 2 (TET2), an enzyme that catalyzes the conversion of 5-methylcytosine into 5-hydroxymethylcytosine (5-hmC) in myeloid neoplasms. We have recently identified reduced TET2 mRNA expression in myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), which is associated with a poor overall survival in MDS. We herein aimed to investigate TET2 mutations and their impact on TET2 expression in a cohort of patients with myeloid neoplasms, including MDS and AML patients.

Findings: TET2 mutations were observed in 8 out of 19 patients (42 %) with myeloid neoplasms. The TET2 expression profile was similar between in wild type and in TET2 mutated patients.

Conclusion: Our results suggest that TET2 expression is reduced in MDS/AML patients, independently of mutational status.

Keywords: Acute myeloid leukemia; Mutation; Myelodysplastic syndromes; TET2; Ten-eleven-translocation 2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • DNA Mutational Analysis
  • DNA-Binding Proteins / analysis
  • DNA-Binding Proteins / genetics*
  • Dioxygenases
  • Down-Regulation
  • Female
  • Gene Expression Regulation, Enzymologic
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Leukemia, Myeloid, Acute / enzymology
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / pathology
  • Male
  • Middle Aged
  • Mutation*
  • Myelodysplastic Syndromes / enzymology
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology
  • Proto-Oncogene Proteins / analysis
  • Proto-Oncogene Proteins / genetics*
  • RNA, Messenger / genetics*

Substances

  • Biomarkers, Tumor
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • RNA, Messenger
  • Dioxygenases
  • TET2 protein, human