Methods for ctDNA detection in lymphomas
| Method . | Technology . | Alteration types . | Sensitivity (analytical) . | Sensitivity (practical) . | Useful for MRD . | Useful For genotyping . | Key advantages . | Key disadvantages . |
|---|---|---|---|---|---|---|---|---|
| Ig-HTS (ClonoSEQ)13,14 | Amplicon sequencing | VDJ rearrangement | 1:1 000 000 | 1:10 000 | Yes | No | Commercially available | One locus limits sensitivity, no genotyping. |
| CAPP-Seq6,15,16,18,26 | Targeted sequencing | SNVs, CNVs, translocations, VDJ. | 2.5:100 000 | 2.5:100 000 | Yes | Yes | High sensitivity, genotypic information | Not commercially available |
| Lymphopanel19 | Amplicon sequencing | SNVs and CNVs | 1:1 000 | 1:1 000 | Yes | Yes | Genotypic information | Lower sensitivity |
| Low-pass WGS20,21 | WGS | CNVs | 1:100 | 1:100 | No | Yes | Genotypic information for CNVs | Works best with high tumor burden |
| dPCR10-12 | PCR | SNVs | 1:10 000 | 1:10 000 | Yes (if hotspot mutation present) | Yes (hotspots only) | Low cost and simple | Few hotspots in lymphomas |
| Method . | Technology . | Alteration types . | Sensitivity (analytical) . | Sensitivity (practical) . | Useful for MRD . | Useful For genotyping . | Key advantages . | Key disadvantages . |
|---|---|---|---|---|---|---|---|---|
| Ig-HTS (ClonoSEQ)13,14 | Amplicon sequencing | VDJ rearrangement | 1:1 000 000 | 1:10 000 | Yes | No | Commercially available | One locus limits sensitivity, no genotyping. |
| CAPP-Seq6,15,16,18,26 | Targeted sequencing | SNVs, CNVs, translocations, VDJ. | 2.5:100 000 | 2.5:100 000 | Yes | Yes | High sensitivity, genotypic information | Not commercially available |
| Lymphopanel19 | Amplicon sequencing | SNVs and CNVs | 1:1 000 | 1:1 000 | Yes | Yes | Genotypic information | Lower sensitivity |
| Low-pass WGS20,21 | WGS | CNVs | 1:100 | 1:100 | No | Yes | Genotypic information for CNVs | Works best with high tumor burden |
| dPCR10-12 | PCR | SNVs | 1:10 000 | 1:10 000 | Yes (if hotspot mutation present) | Yes (hotspots only) | Low cost and simple | Few hotspots in lymphomas |
Sensitivity is described in 2 ways: the analytical limit of detection for the assay and the practical limit of detection for the assay from an ∼5-mL plasma sample containing ∼10 000 haploid genome equivalents of DNA.
CNV, copy number variation; SNV, single nucleotide variant; VDJ, variable, diversity, joining segments of immunoglobulin; WGS, whole-genome sequencing.