chromosome 5q deletion syndrome
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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
More general terms
Additional terms
References
- ↑ Wikipedia: Chromosome 5q deletion syndrome http://en.wikipedia.org/wiki/Chromosome_5q_deletion_syndrome
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/19898489
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/17159988
- ↑ 4.0 4.1 Medical Knowledge Self Assessment Program (MKSAP) 16, 18. American College of Physicians, Philadelphia 2012, 2018.