(HealthDay News) — Clonal hematopoiesis with somatic mutations is increasingly common with aging, according to two studies published online November 26 in the New England Journal of Medicine.

Siddhartha Jaiswal, MD, PhD, from Massachusetts General Hospital in Boston, and colleagues analyzed whole-exome sequencing data from DNA in the peripheral blood cells of 17,182 individuals. The authors examined the presence of somatic mutations in 160 genes that are recurrently mutated in hematological cancers. The researchers found that among individuals <40 years, detectable somatic mutations were rare, but their frequency increased with age (clonal mutations observed in 9.5, 11.7, and 18.4% of those aged 70–79, 80–89, and 90–108 years, respectively). The presence of somatic mutations correlated with increased risk of hematologic cancer, all-cause mortality, incident coronary heart disease, and ischemic stroke.

Giulio Genovese, PhD, from the Broad Institute of the Massachusetts Institute of Technology in Cambridge, and colleagues analyzed data from whole-exome sequencing of DNA in peripheral blood cells from 12,380 individuals who were not selected for cancer or hematologic phenotypes. Somatic mutations were identified on the basis of unusual allelic fractions. The researchers found that 10% of persons aged >65 years had clonal hematopoiesis with somatic mutations, compared with only 1% of those aged <50 years. Clonal hematopoiesis was associated with a significantly increased risk of subsequent hematologic cancer.

“Clonal hematopoiesis with somatic mutations is readily detected by means of DNA sequencing, is increasingly common as people age, and is associated with increased risks of hematologic cancer and death,” Genovese and colleagues write.

Abstract – Jaiswal
Full Text
Abstract – Genovese
Full Text