KEGG   DISEASE: Myelodysplastic syndromeHelp
Entry
H01481                      Disease                                

Name
Myelodysplastic syndrome
  Subgroup
5q- syndrome [DS:H01484]
Description
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to acute myeloid leukemia. Currently, there are a few FDA-approved drugs for treatment of MDS none of which are curative. Allogeneic stem cell transplantation (ASCT) is the only curative therapy. But many MDS patients have been ineligible for transplants, since the median age at diagnosis for MDS is 75 years. Sequencing of MDS genomes has identified mutations in genes implicated in RNA splicing, DNA modification, chromatin regulation, and cell signaling.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01481  Myelodysplastic syndrome
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myelodysplastic syndromes
    2A36  Myelodysplastic syndrome with isolated del(5q)
     H01481  Myelodysplastic syndrome
    2A37  Myelodysplastic syndrome, unclassifiable
     H01481  Myelodysplastic syndrome
    2A3Z  Myelodysplastic syndromes, unspecified
     H01481  Myelodysplastic syndrome
BRITE hierarchy
Pathway
hsa03040 Spliceosome   
hsa04550 Signaling pathways regulating pluripotency of stem cells   
Gene
TET2 [HSA:54790]
ASXL1 [HSA:171023] [KO:K11471]
DNMT3A [HSA:1788] [KO:K17398]
IDH1 [HSA:3417] [KO:K00031]
IDH2 [HSA:3418] [KO:K00031]
GATA2 [HSA:2624] [KO:K17894]
SF3B1 [HSA:23451] [KO:K12828]
SRSF2 [HSA:6427] [KO:K12891]
U2AF1 [HSA:7307] [KO:K12836]
ZRSR2 [HSA:8233]
RUNX1 [HSA:861] [KO:K08367]
TP53 [HSA:7157] [KO:K04451]
NRAS [HSA:4893] [KO:K07828]
JAK2 [HSA:3717] [KO:K04447]
Drug
Azacitidine [DR:D03021]
Decitabine [DR:D03665]
Other DBs
ICD-11: 2A36 2A37 2A3Z
ICD-10: D46
MeSH: D009190
OMIM: 614286
Reference
  Authors
Gangat N, Patnaik MM, Tefferi A
  Title
Myelodysplastic syndromes: Contemporary review and how we treat.
  Journal
Am J Hematol 91:76-89 (2016)
DOI:10.1002/ajh.24253
Reference
  Authors
Jang JH, Harada H, Shibayama H, Shimazaki R, Kim HJ, Sawada K, Mitani K
  Title
A randomized controlled trial comparing darbepoetin alfa doses in red blood cell transfusion-dependent patients with low- or intermediate-1 risk myelodysplastic syndromes.
  Journal
Int J Hematol 102:401-12 (2015)
DOI:10.1007/s12185-015-1862-5
Reference
  Authors
Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, Wlodarski MW, Kolking B, Wichmann M, Gorlich K, Gohring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M
  Title
Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes.
  Journal
Blood 119:3578-84 (2012)
DOI:10.1182/blood-2011-12-399337
Reference
  Authors
Cazzola M, Della Porta MG, Malcovati L
  Title
The genetic basis of myelodysplasia and its clinical relevance.
  Journal
Blood 122:4021-34 (2013)
DOI:10.1182/blood-2013-09-381665

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