Table 1.
Studies that sequenced one or more genes of samples collected at the time of diagnosis or at AP/BC in the TKI era
| Study* | Disease stage |
No. of patients |
Sequencing Method |
No. of genes |
Genes targeted in studies that included <10 genes |
|---|---|---|---|---|---|
| Corm et al. 2005 [14] | Diagnosis | 1 | Sanger | 1 | RUNX1 |
| Corm et al. 2005 [14] | BC | 1 | Sanger | 1 | RUNX1 |
| Zhang et al. 2008 [42] | AP/BC | 85 | Sanger | 13 | |
| Mullighan et al. 2008 [43] | AP/BC | 22 | SNP Array / PCR | IKZF1 deletion (PCR) | |
| Piccaluga et al. 2009 [44] | BC | 1 | Sanger | 1 | NPM1 |
| Boultwood et al. 2010 [45] | BC | 21 | Sanger | 3 | ASXL1 (21 patients), TP53, IKZF1 (2 patients) |
| Roche-Lestienne et al. 2011 [20] | Diagnosis | 91 | Sanger | 4 | ASXL1, TET2, IDH1, IDH2 |
| Roche-Lestienne et al. 2011 [20] | AP/BC | 20 | Sanger | 4 | ASXL1, TET2, IDH1, IDH2 |
| Soverini et al. 2011 [21] | Diagnosis | 1 | RNA-Seq | ||
| Soverini et al. 2011 [21] | BC | 1 | RNA-Seq | ||
| Soverini et al. 2011 [21] | Diagnosis | 49 | Sanger | 2 | IDH1, IDH2 |
| Soverini et al. 2011 [21] | BC | 119 | Sanger | 2 |
IDH1, IDH2 (119 patients) JAK2, IKZF1 exon deletion (4 patients) |
| Grossmann et al. 2011 [47] | BC | 39 | Targeted NGS panel / Sanger / PCR | 12 | |
| Makishima et al. 2011 [46] | BC | 40 | Sanger | 7 | ASXL1, TET2, IDH1, IDH2, JAK2, CBL, CBLB |
| Menezes et al. 2013 [23] | Diagnosis | 1 | Whole-exome | ||
| Menezes et al. 2013 [23] | BC | 1 | Whole-exome | ||
| Menezes et al. 2013 [23] | Diagnosis | 13 | Sanger | 2 | ASXL1, TP53 |
| Menezes et al. 2013 [23] | BC | 13 | Sanger | 2 | ASXL1, TP53 |
| Konoplev et al. 2013 [48] | BC | 5 | Sanger | 1 | NPM1 |
| Watkins et al. 2013 [24] | Diagnosis | 33 | Sanger | 1 | NPM1 |
| Watkins et al. 2013 [24] | BC | 14 | Sanger | 1 | NPM1 |
| Schmidt et al. 2014 [25] | Diagnosis | 15 | Targeted NGS panel | 25 | |
| Huang et al. 2014 [49] | BC | 1 | Whole-exome | ||
| Mitani et al. 2016 [26] | Diagnosis | 15 | Whole-exome | ||
| Valikhani et al. 2017 [27] | Diagnosis | 66 | Sanger | 2 | ASXL1, JAK2 |
| Mologni et al. 2017 [28] | Diagnosis | 19 | Whole-exome | ||
| Togasaki et al. 2017 [29] | Diagnosis | 24 | Whole-exome | ||
| Sloma et al. 2017 [30] | Diagnosis | 1 | Whole-genome | ||
| Sloma et al. 2017 [30] | BC | 1 | Whole-genome | ||
| Kim Blood et al. 2017 [50] | BC | 8 | Whole-exome | ||
| Kim Blood et al. 2017 [31] | Diagnosis | 100 | Targeted NGS panel | 92 | |
| Kim Blood et al. 2017 [31] | AP/BC | 8 | Targeted NGS panel | ||
| Sklarz et al. 2018 [51] | BC | 1 | Targeted NGS panel | 50 | |
| Branford et al. 2018 [22] | Diagnosis | 49 | Whole-exome / RNA-Seq | ||
| Branford et al. 2018 [22] | BC | 39 | Whole-exome / RNA-Seq | ||
| Magistroni et al. 2019 [61] | BC | 8 | Whole-exome | ||
| Nteliopoulos et al. 2019 [32] | Diagnosis | 124 | Targeted NGS panel | 71 |
*
Studies were included if the disease stage was clearly defined as diagnosis or AP/BC. Patients defined as advanced phase at diagnosis were not included in the diagnosis group. The sensitivity of mutant detection and the criteria for selection of patients for sequencing varied between the studies.