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The detection of molecular alterations through approaches such as next-generation sequencing (NGS) can impact treatment decisions.1 The 2022 European LeukemiaNet (ELN) recommendations identify 22 target genes or gene fusions that should be sequenced at diagnosis for optimal treatment decisions in acute myeloid leukemia (AML). An additional 20 optional genes should be sequenced at diagnosis for potential measurable residual disease monitoring.1 Due to the high number of relevant genes, and with many of these genes requiring sequencing within 3–5 days, comprehensive molecular profiling with NGS has the potential to improve the diagnosis, risk stratification, and identification of therapeutic targets in patients with AML.1
Here, we summarize a validation of the Oncomine Myeloid Assay GX v2 in combination with the Ion Torrent Genexus System using commercial controls in myeloid malignancies published by Zbieranski and Insuasti-Beltran.1 in The Journal of Molecular Diagnostics.
Figure 1. Gene included in the Oncomine Myeloid Assay GX v2*
ITD, internal tandem duplication; PTD, partial tandem duplication; TKD, tyrosine kinase domain.
*Adapted from Zbieranski and Insuasti-Beltran.1 Created with BioRender.com.
Table 1. Analytical sensitivity of the Oncomine Myeloid Assay GX v2 for SNVs, indels, and gene fusions*
Type of variant |
Expected VAF |
Expected variants/fusions |
TP |
TN |
FP |
FN |
Sensitivity (PPA), % |
SNVs/indels |
>10% |
7 |
7 |
0 |
0 |
0 |
100 |
5–10% |
21 |
21 |
0 |
0 |
0 |
100 |
|
<5% |
26 |
18 |
0 |
0 |
8 |
69 |
|
Fusions |
95 copies/µL |
7 |
7 |
0 |
0 |
0 |
100 |
32 copies/µL |
7 |
7 |
0 |
0 |
0 |
100 |
|
11 copies/µL |
7 |
7 |
0 |
0 |
0 |
100 |
|
FN, false negative; FP, false positive; indel, insertion or deletion; PPA, percent positive agreement; SNV, single nucleotide variant; TN, true negative; TP, true positive; VAF, variant allele frequency. |
Key learnings |
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|
References
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