Table A1.
High-throughput methods of minimal residual disease determination in hematological malignancies.
| Hematological Malignancy | Authors | NGS Methodology-Equipment | Target | Sensitivity | Year |
|---|---|---|---|---|---|
| AML | Thol et al. | Pyrosequencing 454 Junior |
FLT3-ITD NPM1 |
NE | 2012 |
| AML | Spencer et al. | Sure Select- Illumina-HiSeq |
FLT3-ITD | NE | 2013 |
| AML | Klco et al. | Ion Torrent-PGM | xGen® AML Cancer Panel | NE | 2015 |
| AML | Jongen-Lavrencic et al. | Illumina-MiSeq | TruSight® Myeloid Sequencing Panel | NE | 2018 |
| AML | Levis et al. | Illumina-MiSeq | FLT3-ITD | 10−6 | 2018 |
| AML | Morita et al. | Illumina-HiSeq 2000 |
NPM1
DNMT3A FLT3-ITD |
NE | 2018 |
| AML | Thol. et al. | Illumina-MiSeq |
IDH1 *
DNMT3A |
5 × 10−5 | 2018 |
| AML | Onecha et al. | Ion Torrent-Proton PI |
NPM1 *
IDH1 IDH2 |
5 × 10−5 | 2019 |
| AML | Malmberg et al. | Illumina-MiSeq | TruSight Myeloid Sequencing Panel RUNX1/RUNX1T1 KMT2A/MLLT10 |
NE | 2019 |
| CLL | Logan et al. | Pyrosequencing 454 Junior | IGH(VDJ) | 10−5 | 2011 |
| CLL | Logan et al. | Illumina | IGH(DJ) | 10−6 | 2013 |
| CLL | Rossi et al. | Pyrosequencing 454 Junior | TP53 | NE | 2014 |
| CLL | Stamatopoulos et al. | Illumina-MiSeq | IGH LEADER (VDJ) | NE | 2017 |
| ALL | Wu et al. | Illumina-HiSeq |
TRB *
TRG |
10−5 | 2011 |
| ALL | Gawad et al. | Illumina-MiSeq | IGH(VDJ) | NE | 2012 |
| ALL | Faham et al. | Illumina-MiSeq |
IGH(VDJ) * IGH(DJ) * TRB TRD TRG |
10−6 | 2012 |
| ALL | Wu et al. | ClonoSEQ assay-Illumina |
IGH(VDJ) IGH(DJ) |
10−6 | 2014 |
| ALL | Pulsipher et al. | Illumina-HiSeq | IGH(VDJ) | 10−7 | 2015 |
| ALL | Ferret et al. | Ion Torrent-PGM |
IGH(VDJ) IGK TRG TRD |
NE | 2016 |
| ALL | Sekiya et al. | Illumina-MiSeq |
IGH(VDJ) *
TRG |
10−6 | 2016 |
| ALL | Sala Torra et al. | ClonoSEQ assay-Illumina |
IGH(VDJ) IGH(DJ) |
NE | 2017 |
| ALL | Salson et al. | Ion Torrent- PGM |
IGH(VDJ) * TRG |
2 × 10−5 | 2017 |
| ALL | Cheng et al. | Illumina-MiSeq | IGH(VDJ) | 10−6 | 2018 |
| ALL | Theunissen et al. | Illumina-MiSeq |
IGH(VDJ) IGK TRG TRD TRB |
NE | 2018 |
| ALL-CNS | Sanchez et al. | Ion Torrent-S5 XL | KD of BCR-ABL1 | NE | 2017 |
| ALL-CNS | Bartram et al. | Illumina-MiSeq | IGH(VDJ) | NE | 2018 |
| MM | Vij et al. | Illumina-MiSeq |
IGH(VDJ) IGH(DJ) IGK |
NE | 2014 |
| MM | Martinez-Lopez et al. | Illumina-MiSeq | IGH(VDJ) | 10−5 | 2014 |
| MM | Avet-Loiseau et al. | ClonoSEQ assay-Illumina |
IGH(VDJ) IGH(DJ) |
NE | 2016 |
| MM | Martinez-Lopez et al. | Ion Torrent-S5 XL Illumina-MiSeq |
IGH(VDJ) * IGH(DJ) * IGK* |
10−5 | 2017 |
| MM | Perrot et al. | Illumina-MiSeq | IGH(VDJ) | 10−6 | 2018 |
ALL—Acute Lymphoblastic Leukemia; AML—Acute Myeloid Leukemia; CNS—Central Nervous System; CLL—Chronic Lymphocytic Leukemia; KD—Kinase Domain; MM- Multiple Myeloma; NE—Not evaluated; NGS—Next-Generation Sequencing. The target marked with an asterisk (*) was used to determine sensitivity.