Skip to main content
letter
. 2019 Oct 16;188(5):605–622. doi: 10.1111/bjh.16175

Table 3.

Other myeloid‐related genes more frequent in AML, MPN and other MDS/MPN.

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.