Table 2.
Frequency of PNH in AA compared with inherited bone marrow failure disorders
| Study | Year | Population | Study design | Disease: number of patients | PNH testing method | Frequency of PNH clones | Comparison |
|---|---|---|---|---|---|---|---|
| DeZern et al26 | 2014 | JHU cohort | Retrospective | AA: n = 132 IBMF: n = 20 |
Flow cytometry on peripheral blood (sensitivity range >0.01%-0.1%) | AA: 61 of 132 (46%) IBMF: 0 of 20 (0%) |
• PPV for AA: 100% • NPV for AA: 54% |
| Shah et al8 | 2021 | Penn/CHOP cohort | Retrospective | AA: n = 126 Inherited: n = 9 Other: n = 13 |
Flow cytometry on peripheral blood (sensitivity range >0.01%-1%) | AA: 58 of 126 (46%) Inherited and other: 0 of 22 (0%) |
• AA vs IBMF, OR 11.10, P < .05 • AA vs all inherited disorders including IBMF, OR 16.23, P < .05 • AA vs all non-AA, non-PNH, OR 38.43, P < .05 • PPV for AA vs IBMF: 100% • NPV for AA vs IBMF: 48.5% |
| Keller et al27 | 2002 | Camp Sunshine SDS cohort | Retrospective | n = 28 | Flow cytometry on peripheral blood (PNH clones >1%) | 0 of 28 patients (0%) | NA |
| Kennedy et al28 | 2014 | SDS cohort | Retrospective | SDS: n = 99 SDS-like: n = 11 |
Targeted, error-corrected sequencing of PIGA in bone marrow (>0.1% VAF) | 0 of 110 patients with PIGA mutations (0%) | NA |
IBMF, inherited bone marrow failure; Inherited, inherited hematologic disorders; JHU, Johns Hopkins University; NA, not applicable; NPV, negative predictive value; OR, odds ratio; Penn/CHOP, University of Pennsylvania/Children's Hospital of Philadelphia; PPV, positive predictive value; VAF, variant allele fraction.