Molekulargenetik


 

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