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. 2023 Jul 7;7(20):6092–6107. doi: 10.1182/bloodadvances.2023010045

Figure 2.

Figure 2.

Defining the spectrum of CH in germline GATA2, RUNX1, and DDX41 carriers-without HM. (A) Each individual in the carriers-without HM cohort was defined as having CH (yellow) or no identifiable CH (no-CH, green), based on the identification of somatic clinically relevant variants, driver somatic variants. The age of the individual at the time of sample collection is indicated. (B) Correlation of the ages of malignancy development (HM, red) observed in the germ line malignancy cohorts with the carriers-without HM cohort, with (yellow) and without CH (green). (C) Demographics of individuals with CH variants in the RUNX1 germ line carriers-without HM cohorts. Column graph shows the number of somatic variants identified in individuals with CH. Error bars show the standard error of the mean. Line graphs show the prevalence of CH in the carriers-without HM germ line cohort in different age groups. ∗P < .05, logistic regression model. (D) Violin plots showing the distribution of VAFs of driver somatic variants (shown in panel A) in the germ line RUNX1 carriers-without HM cohort in individuals under the age of 50 years or >50 years old. VAFs for X-chromosome genes were normalized in male individuals to compensate for ploidy, enabling comparison with autosomal genes. HM, hematologic malignancy.