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chromosome 5q deletion syndrome

Epidemiology: - predominantly older women Pathology: - treatment-resistant anemia & myelodysplastic syndrome, possibly progressing to acute myelogenous leukemia - 5q deletion is the form of myelodysplastic syndrome with the best prognosis in terms of survival (mean life expectancy = 9.7 years) [4] Genetics: - chromosomal deletion 5q12-35 - ribosomal protein S14 (RPS14) is an affected gene - gene encoding alpha-catenin (CTNNA1) shows reduced expression - deletion of miR-145 & miR-146 loci is associated with elevated platelet count & megakaryocytic dysplasia Management: - many patients are transfusion-dependent - lenalidomide is approved for a subset of patients

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chromosome 5q12-35 deletion myelodysplastic syndrome (MDS)

General

chromosome deletion syndrome

References

  1. Wikipedia: Chromosome 5q deletion syndrome http://en.wikipedia.org/wiki/Chromosome_5q_deletion_syndrome
  2. Starczynowski DT et al Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype. Nat Med. 2010 Jan;16(1):49-58 PMID: 19898489
  3. Liu TX et al Chromosome 5q deletion and epigenetic suppression of the gene encoding alpha-catenin (CTNNA1) in myeloid cell transformation. Nat Med. 2007 Jan;13(1):78-83. Epub 2006 Dec 10. PMID: 17159988
  4. Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.