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Efficient Purification and LC-MS/MS-based Assay Development for Ten-Eleven Translocation-2 5-Methylcytosine Dioxygenase
Published on: October 15, 2018
Mutation in TET2 in myeloid cancers
François Delhommeau1, Sabrina Dupont, Véronique Della Valle
1INSERM U790, Institut Gustave Roussy, Villejuif, France.
The New England Journal of Medicine
|May 29, 2009
Summary
Somatic mutations in the TET2 gene are common in myeloid cancers, affecting approximately 15% of patients. These TET2 gene defects are observed in myelodysplastic syndromes, myeloproliferative disorders, and acute myeloid leukemia.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Myelodysplastic syndromes and myeloproliferative disorders involve deregulated myeloid cell production.
- The underlying mechanisms of these myeloid disorders are not fully understood.
Purpose of the Study:
- To identify a common tumor-suppressor gene in myelodysplastic syndromes, myeloproliferative disorders, and acute myeloid leukemia (AML).
- To investigate the role of the TET2 gene in these myeloid malignancies.
Main Methods:
- Utilized molecular, cytogenetic, comparative-genomic-hybridization, and SNP analyses.
- Sequenced the TET2 gene in 320 patients and analyzed mutations using in vitro assays and mouse models.
Main Results:
- Identified TET2 deletions or mutations in various myeloid cancers, including 19% of myelodysplastic syndromes, 12% of myeloproliferative disorders, and 24% of secondary AML.
- TET2 defects were found in hematopoietic stem cells and preceded JAK2 mutations in myeloproliferative disorders.
Conclusions:
- Somatic mutations in TET2 are a frequent event in myeloid cancers.
- TET2 mutations occur in approximately 15% of patients with diverse myeloid malignancies.
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