KEGG   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
  Authors
Schwartz LC, Mascarenhas J
  Title
Current and evolving understanding of atypical chronic myeloid leukemia.
  Journal
Blood Rev 33:74-81 (2019)
DOI:10.1016/j.blre.2018.07.004
Reference
  Authors
Zoi K, Cross NC
  Title
Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable.
  Journal
Int J Hematol 101:229-42 (2015)
DOI:10.1007/s12185-014-1670-3
Reference
  Authors
Muramatsu H, Makishima H, Maciejewski JP
  Title
Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: novel pathogenetic lesions.
  Journal
Semin Oncol 39:67-73 (2012)
DOI:10.1053/j.seminoncol.2011.11.004
Reference
  Authors
Deininger MWN, Tyner JW, Solary E
  Title
Turning the tide in myelodysplastic/myeloproliferative neoplasms.
  Journal
Nat Rev Cancer 17:425-440 (2017)
DOI:10.1038/nrc.2017.40
Reference
  Authors
Gotlib J, Maxson JE, George TI, Tyner JW
  Title
The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment.
  Journal
Blood 122:1707-11 (2013)
DOI:10.1182/blood-2013-05-500959
Reference
  Authors
Smith BN, Savona M, Komrokji RS
  Title
Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN).
  Journal
Clin Lymphoma Myeloma Leuk 19:1-8 (2019)
DOI:10.1016/j.clml.2018.11.019
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