KEGG   DISEASE: 5q- syndrome
Entry
H01484                      Disease                                

Name
5q- syndrome
  Supergrp
Myelodysplastic syndrome [DS:H01481]
Description
5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression to acute myeloid leukemia (AML) compared with other types of MDS. The WHO has proposed diagnostic criteria for the 5q- syndrome, defining the syndrome as representing de novo MDS, with a 5q interstitial deletion between bands 31 and 33 as the sole cytogenetic abnormality, macrocytic anemia, less than 5% blasts in the peripheral blood, and a normal or increased platelet count. The 5q- syndrome is also unique because it shows a remarkable response to treatment with the lenalidomide. It has been suggested that the 5q- syndrome is caused by haploinsufficiency of the ribosomal protein S14 (RPS14) gene which maps to the commonly deleted region.
Category
Hematologic disease
Brite
Human diseases [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01484  5q- 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)
     H01484  5q- syndrome
Related
pathway
hsa03010  Ribosome
Gene
RPS14 [HSA:6208] [KO:K02955]
Drug
Lenalidomide [DR:D04687] (chromosome 5q deletion)
Other DBs
ICD-11: 2A36
ICD-10: D46.7
MeSH: C535323
OMIM: 153550
Reference
  Authors
Gaballa MR, Besa EC
  Title
Myelodysplastic syndromes with 5q deletion: pathophysiology and role of lenalidomide.
  Journal
Ann Hematol 93:723-33 (2014)
DOI:10.1007/s00277-014-2022-3
Reference
  Authors
Ebert BL, Pretz J, Bosco J, Chang CY, Tamayo P, Galili N, Raza A, Root DE, Attar E, Ellis SR, Golub TR
  Title
Identification of RPS14 as a 5q- syndrome gene by RNA interference screen.
  Journal
Nature 451:335-9 (2008)
DOI:10.1038/nature06494
Reference
  Authors
Nimer SD
  Title
Clinical management of myelodysplastic syndromes with interstitial deletion of chromosome 5q.
  Journal
J Clin Oncol 24:2576-82 (2006)
DOI:10.1200/JCO.2005.03.6715
Reference
  Authors
Kronke J, Fink EC, Hollenbach PW, MacBeth KJ, Hurst SN, Udeshi ND, Chamberlain PP, Mani DR, Man HW, Gandhi AK, Svinkina T, Schneider RK, McConkey M, Jaras M, Griffiths E, Wetzler M, Bullinger L, Cathers BE, Carr SA, Chopra R, Ebert BL
  Title
Lenalidomide induces ubiquitination and degradation of CK1alpha in del(5q) MDS.
  Journal
Nature 523:183-8 (2015)
DOI:10.1038/nature14610
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