Figure 4.
Familial hematologic malignancy frequency in the FPDMM cohort. (A) Histogram showing the number of cases of HM malignancy by history in each of the 47 enrolled families. Cases were counted only if they were of a person who was suspected to have FPDMM and could have had the RUNX1 variant according to Mendelian inheritance. Cases included deceased family members and members not enrolled in the study. The families are sorted as decreasing numbers of cases. (B) Bar graph showing number of cases with HM for each decade of life in which the HM was initially diagnosed. Only cases that had age of diagnosis data available were included. (C) Frequency of HM organized by type of RUNX1 variant. Each data point represents the frequency for a single family, in which the denominator is the number of potential FPDMM cases in the family (supplemental Table 4, column 2) and the numerator is the number of cases with HM (supplemental Table 4, column 3). (D) A scatterplot showing the relationship of number of hematologic malignancies to the size of the family for the different variant types. Each data point represents 1 family, in which the x-coordinate is the number of FPDMM cases in the family, and the y-coordinate is the number of cases with hematologic malignancy reported for that family (enrolled and historical). The dotted line shows a theoretical 100% penetrance for HM. Larger families are predicted to have more cases than smaller families.