Comparison of the prevalence of 3 AA-associated laboratory findings (6p CN-LOH, PNH clones, and clonal TRG rearrangement) in AA and PNH patients. (A) The prevalence of 3 AA-associated laboratory findings (PNH clones, acquired 6p CN-LOH^MHC, and clonal TRG rearrangement) in the 72 AA patients within the CHOP-Penn cohort who had all 3 tests performed. The bar graph on the left depicts a combined prevalence of 64% for PNH clones, acquired 6p CN-LOH^MHC, and clonal TRG rearrangement, with the frequency and co-occurrence of each finding shown in the Venn diagram on the right. (B) A paired bar plot presenting the prevalence of the indicated laboratory findings in patients with AA and PNH disease. PNH patients were defined as those with clinical hemolysis and >30% PNH granulocytes on flow cytometry, and, by definition, all PNH disease patients had PNH clones. In contrast to AA patients, who had 11% prevalence of 6p CN-LOH, none of the 39 PNH disease patients had detectable 6p CN-LOH clones (OR 10.39; P = .025) at the level of sensitivity of the SNP-A assay (∽5% clone size). Conversely, among 13 AA patients who had acquired 6p CN-LOH, PNH clones were found in 4 patients (31%), ranging from 0.01% to 1.30% granulocyte clone size. Compared with AA (29%, 26 of 89 patients), PNH disease patients had a higher prevalence of clonal TRG rearrangement (60%, 12 of 20 patients; OR 3.63; P = .018); this trend endured following age adjustment, although it was no longer statistically significant (common OR 3.07; P_adj = .068).