ARCH defining genes
| Gene . | Chromosome . | Region . | Gene . | Chromosome . | Region . |
|---|---|---|---|---|---|
| ASXL1 | 20 | Whole gene | NOTCH1 | 9 | Indel: exon 0 |
| BRAF | 5 | Missense: position 600 (aa) | NPM1* | 5 | Indel: position 288 (aa) |
| CALR | 12 | Indel: positions 360 to 380 (aa) | NRAS | 1 | Missense: positions 12, 13, 61 (aa) |
| CBL | 11 | Whole gene | PPM1D | 17 | Whole gene |
| DNMT3A | 2 | Whole gene | PTPN11 | 12 | Whole gene |
| EZH2 | 7 | Whole gene | RUNX1 | 21 | Whole gene |
| FLT3 | 12 | Missense: position 835 (aa) and exons 9-11 | SETBP1 | 18 | Missense: position 870 (aa) |
| GNAS | 20 | Whole gene | SF3B1 | 2 | Missense: positions 625, 666, 700 (aa) |
| GNB1 | 1 | Missense: positions 57, 76, 80 (aa) | SMC1A | X | Whole gene |
| IDH1 | 2 | Missense: positions 132 (aa) | SMC3 | 10 | Whole gene |
| IDH2 | 15 | Missense: positions 140, 172 (aa) | SRSF2 | 17 | Missense: position 95 (aa) |
| JAK2 | 9 | Missense: position 617 (aa) | STAG2 | X | Whole gene |
| KIT* | 4 | Missense: position 816 (aa) | TET2 | 4 | Whole gene |
| KRAS | 12 | Missense: positions 12, 13, 61 (aa) | TP53 | 17 | Whole gene |
| MPL | 1 | Indel: exon 10 | U2AF1 | 21 | Missense: positions 34, 154 (aa) |
| MYD88 | 3 | Missense: position 265 (aa) | WT1* | 11 | Whole gene |
| Gene . | Chromosome . | Region . | Gene . | Chromosome . | Region . |
|---|---|---|---|---|---|
| ASXL1 | 20 | Whole gene | NOTCH1 | 9 | Indel: exon 0 |
| BRAF | 5 | Missense: position 600 (aa) | NPM1* | 5 | Indel: position 288 (aa) |
| CALR | 12 | Indel: positions 360 to 380 (aa) | NRAS | 1 | Missense: positions 12, 13, 61 (aa) |
| CBL | 11 | Whole gene | PPM1D | 17 | Whole gene |
| DNMT3A | 2 | Whole gene | PTPN11 | 12 | Whole gene |
| EZH2 | 7 | Whole gene | RUNX1 | 21 | Whole gene |
| FLT3 | 12 | Missense: position 835 (aa) and exons 9-11 | SETBP1 | 18 | Missense: position 870 (aa) |
| GNAS | 20 | Whole gene | SF3B1 | 2 | Missense: positions 625, 666, 700 (aa) |
| GNB1 | 1 | Missense: positions 57, 76, 80 (aa) | SMC1A | X | Whole gene |
| IDH1 | 2 | Missense: positions 132 (aa) | SMC3 | 10 | Whole gene |
| IDH2 | 15 | Missense: positions 140, 172 (aa) | SRSF2 | 17 | Missense: position 95 (aa) |
| JAK2 | 9 | Missense: position 617 (aa) | STAG2 | X | Whole gene |
| KIT* | 4 | Missense: position 816 (aa) | TET2 | 4 | Whole gene |
| KRAS | 12 | Missense: positions 12, 13, 61 (aa) | TP53 | 17 | Whole gene |
| MPL | 1 | Indel: exon 10 | U2AF1 | 21 | Missense: positions 34, 154 (aa) |
| MYD88 | 3 | Missense: position 265 (aa) | WT1* | 11 | Whole gene |
Any nonsynonymous, nonsense, or frameshift mutations in the coding regions of these genes will define ARCH. For some genes, the entire sequence needs to be determined because mutations are found throughout the entire coding region. For other genes, determining the sequence of specific hotspots may suffice.
Genes are optional to rule out leukemia because they were not reported in ARCH.