Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

L Busque, JP Patel, ME Figueroa, A Vasanthakumar… - Nature …, 2012 - nature.com
L Busque, JP Patel, ME Figueroa, A Vasanthakumar, S Provost, Z Hamilou, L Mollica, J Li…
Nature genetics, 2012nature.com
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 …
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.
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