KEGG DISEASE: Chronic myelomonocytic leukemia

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

PMID:29878489

Authors

Patnaik MM, Tefferi A

Title