Summary of mutation analysis assays
| Gene . | Type* . | Mutation . | Assay . | References . |
|---|---|---|---|---|
| FLT3 | Type I | ITD | Fragment analysis | Cloos, 200630 |
| D835 | Lightcycler/sequencing | Cloos, 200630 | ||
| N-RAS/K-RAS | Type I | Codon 12/13 | Lightcycler/sequencing | Goemans, 200535 ; Kramer, 200936 |
| Codon 61 | Lightcycler/sequencing | Goemans, 200535 | ||
| KIT | Type I | D816V | Lightcycler/sequencing | Goemans, 200535 |
| Exon 11 ITD | Fragment analysis | Corbacioglu, 200637 | ||
| WT1 | No consensus | Exon 1, 2, 7, 8, 9, 10 | dHPLC, sequencing | Hollink, 20098 |
| CEBPA | Type II | All coding regions | dHPLC, sequencing | Wouters, 200938 ; Hollink, 200939 |
| PTPN11 | Type I | Exon 3/13 | Sequencing | Goemans, 200540 |
| NPM1 | No consensus | Exon 12 | Fragment analysis | See “Methods” |
| Gene . | Type* . | Mutation . | Assay . | References . |
|---|---|---|---|---|
| FLT3 | Type I | ITD | Fragment analysis | Cloos, 200630 |
| D835 | Lightcycler/sequencing | Cloos, 200630 | ||
| N-RAS/K-RAS | Type I | Codon 12/13 | Lightcycler/sequencing | Goemans, 200535 ; Kramer, 200936 |
| Codon 61 | Lightcycler/sequencing | Goemans, 200535 | ||
| KIT | Type I | D816V | Lightcycler/sequencing | Goemans, 200535 |
| Exon 11 ITD | Fragment analysis | Corbacioglu, 200637 | ||
| WT1 | No consensus | Exon 1, 2, 7, 8, 9, 10 | dHPLC, sequencing | Hollink, 20098 |
| CEBPA | Type II | All coding regions | dHPLC, sequencing | Wouters, 200938 ; Hollink, 200939 |
| PTPN11 | Type I | Exon 3/13 | Sequencing | Goemans, 200540 |
| NPM1 | No consensus | Exon 12 | Fragment analysis | See “Methods” |
ITD indicates internal tandem duplication; dHPLC, denaturing high-performance liquid chromatography.
Specifies to which category a mutation for the given gene belongs according to the “2-hit model” by Gilliland et al.12 When consensus is lacking in the literature as to which category a mutation belongs, it is so stated.