Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

Nat Genet. 2012 Nov;44(11):1179-81. doi: 10.1038/ng.2413. Epub 2012 Sep 23.


Aging is characterized by clonal expansion of myeloid-biased hematopoietic stem cells and by increased risk of myeloid malignancies. Exome sequencing of three elderly females with clonal hematopoiesis, demonstrated by X-inactivation analysis, identified somatic TET2 mutations. Recurrence testing identified TET2 mutations in 10 out of 182 individuals with X-inactivation skewing. TET2 mutations were specific to individuals with clonal hematopoiesis without hematological malignancies and were associated with alterations in DNA methylation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / metabolism
  • Aging / genetics*
  • DNA Methylation / genetics*
  • DNA-Binding Proteins* / genetics
  • DNA-Binding Proteins* / metabolism
  • Dioxygenases
  • Exome
  • Female
  • Hematopoiesis
  • Humans
  • Proto-Oncogene Proteins* / genetics
  • Proto-Oncogene Proteins* / metabolism
  • X Chromosome Inactivation


  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • 5-Methylcytosine
  • Dioxygenases
  • TET2 protein, human