KEGG   DISEASE: Myelodysplastic/myeloproliferative neoplasms
Entry
H02410                      Disease                                

Name
Myelodysplastic/myeloproliferative neoplasms
  Subgroup
Chronic myelomonocytic leukemia (CMML) [DS:H02411]
Juvenile myelomonocytic leukemia (JMML)
MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T)
Atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) [DS:H02412]
MDS/MPN-unclassifiable (MDS/MPN-u)
Description
Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). This group includes chronic myelomonocytic leukemia (CMML), its pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic, and transcription gene mutations.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H02410  Myelodysplastic/myeloproliferative neoplasms
Pathway
hsa04014  Ras signaling pathway
Gene
DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
Drug
Imatinib mesylate [DR:D01441]
Comment
ICD-O: 9945/3 Chronic myelomonocytic leukemia
ICD-O: 9876/3 Atypical chronic myelogenous leukemia
ICD-O: 9946/3 Juvenile myelomonocytic leukemia
Other DBs
MeSH: D054437
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
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
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
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
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