KEGG DISEASE: Atypical chronic myeloid leukemia

DISEASE: Atypical chronic myeloid leukemia

Entry

H02412 Disease

Name

Atypical chronic myeloid leukemia

Supergrp

Myelodysplastic/myeloproliferative neoplasms [DS:H02410]

Description

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.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of haematopoietic and lymphoid tissues
   H02412  Atypical chronic myeloid leukemia
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic and myeloproliferative neoplasms
    2A41  Atypical chronic myeloid leukaemia, BCR-ABL1negative
     H02412  Atypical chronic myeloid leukemia

Pathway

hsa04014

Ras signaling pathway

Gene

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]

Comment

ICD-O: 9876/3 Atypical chronic myelogenous leukemia

Other DBs

ICD-11:

2A41 XH21X5 XH26U9

MeSH:

D054438

Reference

PMID:30078497

Authors

Schwartz LC, Mascarenhas J

Title