Germ line ERG variant identified in a family with hematological conditions. (A) Pedigree of family 1 containing the ERG (Y373C) variant that segregates with thrombocytopenia and AML. Age of onset (years). (B) History of platelet and neutrophil counts of affected family members (patient 15, 16, and 17) (I-1, II-1, and II-2). Absolute neutrophil or platelet counts per microliter of blood from complete blood examinations plotted with age (years). Normal lower limit for neutrophils and platelets is marked with a dotted red line. (C) Log R ratio and B-allele plots of single-nucleotide polymorphism–array analysis. All individuals show a cnLOH event that encompasses the entire ERG gene (yellow highlight). Individual II-1 (patient 16) had a second cnLOH event (blue highlight). Log R ratios (top panels) show no loss of copy number, and B-allele frequencies (bottom panels) show regions of LOH, together demonstrating cnLOH. Samples used: patient I-2, BM cytogenetic pellet; II-1 and II-2, PB mononuclear cells. d, died; dx, diagnosed.