Figure 4.
Somatic mutation occurrence and survival. (A) Summary of patients with GATA2 deficiency organized by somatic mutation status, cytogenetics, and diagnosis. Each vertical row represents 1 patient. Filled boxes indicate the presence of the parameter indicated on the left. Gray boxes indicate no data for that parameter. Recurrent mutations are shown in red, cytogenetic findings in blue, and diagnoses in green. Patients with STAG2 mutations are grouped together, followed by patients with mutations in ASXL1, then those with mutations in DNMT3A. Mutations in SRSF2 and U2AF1 are grouped together as “splicing,” and other common hematological mutations are grouped together as “other mutations” (Table 1). Aberrant cytogenetic findings are indicated as described in Figure 2. Familial inheritance is indicated by lavender boxes and de novo is pale purple. Males are indicated by blue and females by red. (B) Recurrent mutations and survival. Kaplan-Meier survival curves for the recurrent somatic mutations. Patients without a mutation in 1 of the recurrent genes are grouped together as “none.” The significance of each group compared with none is indicated. (C) Total somatic mutations and survival. Kaplan-Meier survival curves with the total number of somatic mutations determined by WES and grouped into 3 categories. Survival is from the initial sample collection. *Significant differences between groups.

Somatic mutation occurrence and survival. (A) Summary of patients with GATA2 deficiency organized by somatic mutation status, cytogenetics, and diagnosis. Each vertical row represents 1 patient. Filled boxes indicate the presence of the parameter indicated on the left. Gray boxes indicate no data for that parameter. Recurrent mutations are shown in red, cytogenetic findings in blue, and diagnoses in green. Patients with STAG2 mutations are grouped together, followed by patients with mutations in ASXL1, then those with mutations in DNMT3A. Mutations in SRSF2 and U2AF1 are grouped together as “splicing,” and other common hematological mutations are grouped together as “other mutations” (Table 1). Aberrant cytogenetic findings are indicated as described in Figure 2. Familial inheritance is indicated by lavender boxes and de novo is pale purple. Males are indicated by blue and females by red. (B) Recurrent mutations and survival. Kaplan-Meier survival curves for the recurrent somatic mutations. Patients without a mutation in 1 of the recurrent genes are grouped together as “none.” The significance of each group compared with none is indicated. (C) Total somatic mutations and survival. Kaplan-Meier survival curves with the total number of somatic mutations determined by WES and grouped into 3 categories. Survival is from the initial sample collection. *Significant differences between groups.

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