Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

Lambert Busque, Jay P. Patel, Maria E. Figueroa, Aparna Vasanthakumar, Sylvie Provost, Zineb Hamilou, Luigina Mollica, Juan Li, Agnes Viale, Adriana Heguy, Maryam Hassimi, Nicholas Socci, Parva K. Bhatt, Mithat Gonen, Christopher E. Mason, Ari Melnick, Lucy A. Godley, Cameron W. Brennan, Omar Abdel-Wahab, Ross L. Levine

Research output: Contribution to journalArticle

438 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1179-1181
Number of pages3
JournalNature genetics
Volume44
Issue number11
DOIs
StatePublished - Nov 2012

ASJC Scopus subject areas

  • Genetics

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    Busque, L., Patel, J. P., Figueroa, M. E., Vasanthakumar, A., Provost, S., Hamilou, Z., Mollica, L., Li, J., Viale, A., Heguy, A., Hassimi, M., Socci, N., Bhatt, P. K., Gonen, M., Mason, C. E., Melnick, A., Godley, L. A., Brennan, C. W., Abdel-Wahab, O., & Levine, R. L. (2012). Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nature genetics, 44(11), 1179-1181. https://doi.org/10.1038/ng.2413