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GENATLAS PHENOTYPE
last update : 04-01-2023
Symbol DEL5QMD
Location 5q33.1
Name acquired 5q-deletion in a subtype of myelodysplastic syndromes
Other name(s) Macrocytic anemia, refractory, due to 5q deletion, somatic
Corresponding gene RPS14
Main clinical features
  • characterized by a marked female preponderance, refractory anemia, hypolobulated megakaryocytes and a low risk of transformation to acute myeloid leukemia, proximal to the critical region in malignant myeloid disorders (see TSG5D)
    • Genetic determination
    Prevalence in 10 percent of myelodysplastic syndromes
    Function/system disorder hematology
    Type malignancy
    Gene product
    Name ribosomal subunit protein
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   acquired,cluster of proximal breakpoints in band q14.3 and a distal cluster between bands q33.2 and q34
    various types   haploinsufficiency  
    Remark(s)
  • the 5q- syndrome is caused by a defect in ribosomal protein function; loss of expression of the alpha-catenin tumor suppressor gene (CTNNA1) in hematopoietic stem cells may provide a growth advantage that contributes to human MDS or AML with del(5q) ; inappropriate activation of innate immune signals in hematopoietic stem/progenitor cells phenocopies several clinical features of 5q- syndrome
  • RPS14 haploinsufficiency in del(5q) MDS is linked to activation of the innate immune system and induction of S100A8-S100A9 expression, leading to a TP53-dependent erythroid differentiation defect (PMID: 26878232))
    • Genotype/Phenotype correlations 5q- is associated with a more favorable prognosis, although the clinical course varies considerably