Table 3.
Gene |
Region Frequent mutations |
Type of mutation | Frequency | |
---|---|---|---|---|
MDS (%) | CMML (%) | |||
Frequent in myeloproliferative neoplasms | ||||
CALR |
Exon 9 Codons: all |
Frameshift | <1 | <1 |
CBL |
Exons 8 and 9 Codons: 366–420 |
Missense | <5 | 8–18 |
CSF3R |
Complete coding region Hotspot codons: 618 |
Missense | <1 | 3–4 |
GATA2 |
Exons 2 and 6 Codons: all |
Missense, frameshift | <5 | <1 |
MPL |
Complete coding region Codons 505 and 515 |
Missense | <1 | <1 |
NF1 |
Complete coding region Codons: all |
Nonsense, frameshift, splicing | <5 | <5 |
PTPN11 |
Exons 3 and 7 Codons: all |
Missense | <1 | 4 |
Frequent in acute myeloid leukaemia | ||||
BCOR |
Complete coding region Codon: all |
All | <5 | <5 |
BCORL1 |
Complete coding region Codons: all |
Nonsense, frameshift | <1 | <1 |
CEBPA |
Complete coding region Codons: all |
Missense, frameshift | <5 | <5 |
ETV6 |
Complete coding region Codons: all |
Nonsense, frameshift | <5 | <1 |
FLT3 |
Exons 13–15 and 20 Hotspot codons: FLT3‐ITD and D835 |
Missense, frameshift | <5 | <5 |
KIT |
Exons 2, 8–11, 13 and 17 Codons: all |
Missense, frameshift | <3 | <1 |
NPM1 |
Exon 11 Hotspot codons: W288 |
Frameshift | <5 | <5 |
WT1 |
Exons 7 and 9 Codons: all |
Missense, frameshift | <3 | <3 |
CMML, chronic myelomonocytic leukaemia; ITD, internal tandem duplication; MDS, myelodysplastic syndrome.