Funktion | Mutation (Gen – Locus) | Häufigkeit | Prognose |
prä-mRNA-Splicing | SF3B1 – 2q33.1 | 20-30% | |
SRSF2 – 17q25.1 | 12% | ||
U2AF1 – 21q22.3 | 7% | ||
ZRSR2 – Xp22.1 | 3-5% | ||
SF3A1 – 22q12.2 | 1-2% | ||
SF1 – 11q13 | 1-2% | ||
U2AF65 – 19q13.42 | 1-2% | ||
PRPF40B – 12q13.12 | 1-2% | ||
DNA-Methylierung | TET2 – 4q24 | 20-25% | |
DNMT3A – 2p23 | 5-8% | ||
Histon-Modifikation | ASXL1 – 20q11 | 10-20% | |
EZH2 – 7q35∼q36 | 6% | ||
DNA-Methylierung & Histon-Modifikation | IDH1 – 2q33.3 | 2% | |
IDH2 – 15q26.1 | 2% | ||
Helicase | DDX41 – 5q35.5 | konstitutionell | |
Transkription & Nukleosom-Kontrolle | RUNX1 – 21q22.3 | 10-20% (konstitutionell) | |
SETBP1 – 18q21.1 | 2-5% | ||
NPM1 – 5q25.1 | 1-2% (AML) | ||
ETV6 – 12p13 | 1-3% | ||
CEBPA – 19q13.1 | 1-4% (konstitutionell, AML) | ||
GATA2 – 3q21.3 | konstitutionell | ||
KMT2A – 11q23 | 4% (AML) | ||
Zellzyklus-Kontrolle | TP53 – 17p13.1 | 10% | |
PTEN – 10q23.3 | 1% | ||
CDKN2A – 9q21.3 | 1% | ||
Cohesin-Komplex (10%) | STAG1 – 3q22.3 | 1% | |
STAG2 – Xq25 | 6% | ||
RAD21 – 8q24 | 1% | ||
SMC1A -Xp11.22 | 1% | ||
SMC3 – 10q25.2 | 1% | ||
PDS5B – 13q13.1 | 1% | ||
NIPBL – 5p13.2 | 1% | ||
ESCO2 – 8p21.1 | 1% | ||
Zytokin-Spaltung | N-/KRAS – 1p13.2 | 3-6% (AML) | |
JAK2 – 9p24.1 | 1-3% | ||
FLT3 – 13q12 | 2% (AML) | ||
CBL – 11q23.3 | 1-2% | ||
CSF2 – 5q31.1 | 1% | ||
CSFR3 – 1p34.3 | konstitutionell | ||
KIT – 4q11∼12 | 1% (Mastozytose, AML) | ||
GNAS – 20q13.3 | 1% | ||
BRAF – 7q34 | 1% | ||
Zytoskelett | ANKRD26 – 10q12.1 | konstitutionell |