KEGG   DISEASE: Chronic myelomonocytic leukemia
Entry
H02411                      Disease                                

Name
Chronic myelomonocytic leukemia
  Supergrp
Myelodysplastic/myeloproliferative neoplasms [DS:H02410]
Description
Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder associated with peripheral blood monocytosis, with an inherent risk for leukemic transformation. CMML has overlapping features of myelodysplastic syndromes (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). Gene mutations are seen in >90% of patients, with common abnormalities involving; epigenetic regulators (TET2  -60% and ASXL1 -40%), spliceosome components (SRSF2 -50%), transcription factors (RUNX1 -15%) and cell signaling (RAS -30%, CBL -15%).
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H02411  Chronic myelomonocytic leukemia
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic and myeloproliferative neoplasms
    2A40  Chronic myelomonocytic leukaemia
     H02411  Chronic myelomonocytic leukemia
Pathway
hsa04014  Ras signaling pathway
Gene
TET2 (mutation) [HSA:54790] [KO:K24309]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
CBL (mutation) [HSA:867] [KO:K04707]
RUNX1 (mutation) [HSA:861] [KO:K08367]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
DNMT3A (mutation) [HSA:1788] [KO:K17398]
EZH2 (mutation) [HSA:2146] [KO:K11430]
TP53 (mutation) [HSA:7157] [KO:K04451]
NPM1 (mutation) [HSA:4869] [KO:K11276]
JAK2 (mutation) [HSA:3717] [KO:K04447]
FLT3 (mutation) [HSA:2322] [KO:K05092]
Comment
ICD-O: 9945/3 Chronic myelomonocytic leukemia
Other DBs
ICD-11: 2A40
MeSH: D015477
Reference
  Authors
Patnaik MM, Tefferi A
  Title
Chronic myelomonocytic leukemia: 2018 update on diagnosis, risk stratification and management.
  Journal
Am J Hematol 93:824-840 (2018)
DOI:10.1002/ajh.25104
Reference
  Authors
Patnaik MM, Tefferi A
  Title
Chronic myelomonocytic leukemia: 2016 update on diagnosis, risk stratification, and management.
  Journal
Am J Hematol 91:631-42 (2016)
DOI:10.1002/ajh.24396
Reference
  Authors
Patnaik MM, Tefferi A
  Title
Cytogenetic and molecular abnormalities in chronic myelomonocytic leukemia.
  Journal
Blood Cancer J 6:e393 (2016)
DOI:10.1038/bcj.2016.5
Reference
  Authors
Loghavi S, Khoury JD
  Title
Recent Updates on Chronic Myelomonocytic Leukemia.
  Journal
Curr Hematol Malig Rep 13:446-454 (2018)
DOI:10.1007/s11899-018-0475-5
Reference
  Authors
Thota S, Gerds AT
  Title
Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes.
  Journal
Leuk Lymphoma 59:803-812 (2018)
DOI:10.1080/10428194.2017.1357179
Reference
  Authors
Reiter A, Invernizzi R, Cross NC, Cazzola M
  Title
Molecular basis of myelodysplastic/myeloproliferative neoplasms.
  Journal
Haematologica 94:1634-8 (2009)
DOI:10.3324/haematol.2009.014001
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