Atypical chronic myeloid leukemia

Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient outcomes. aCML is dominated by mutations in SETBP1, granulocyte colony-stimulating factor 3 receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes including NRAS, IDH2, and CBL have recently been described in aCML at lower frequencies.

Cancer

SETBP1 (mutation) [HSA:26040] [KO:K23217]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CSF3R (mutation) [HSA:1441] [KO:K05061]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
ETNK1 (mutation) [HSA:55500] [KO:K00894]
TET2 (mutation) [HSA:54790] [KO:K24309]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
EZH2 (mutation) [HSA:2146] [KO:K11430]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CBL (mutation) [HSA:867] [KO:K04707]
FLT3 (mutation) [HSA:2322] [KO:K05092]
CEBPA (mutation) [HSA:1050] [KO:K09055]
IDH2 (mutation) [HSA:3418] [KO:K00031]

PMID:30078497

PMID:25212680

PMID:22289493

PMID:28642604

PMID:23896413

PMID:30555034