Myelodysplastic syndrome (MDS) with interstitial deletion of a segment of the long arm of chromosome 5q [del(5q)] is 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 long arm of chromosome 5 contains two distinct commonly deleted regions (CDRs). The more distal CDR lies in 5q33.1 and contains 40 protein-coding genes and genes coding microRNAs (miR-143, miR-145). In 5q-syndrome one allele is deleted that accounts for haploinsufficiency of these genes. The mechanism of erythroid failure appears to involve the decreased expression of the ribosomal protein S14 (RPS14) gene and the upregulation of the p53 pathway by ribosomal stress. Friend leukemia virus integration 1 (Fli1) is one of the target genes of miR145. Increased Fli1 expression enables effective megakaryopoiesis in 5q-syndrome.
Keyphrases
- acute myeloid leukemia
- genome wide
- genome wide identification
- cell proliferation
- poor prognosis
- long non coding rna
- bone marrow
- bioinformatics analysis
- copy number
- long noncoding rna
- genome wide analysis
- binding protein
- innate immune
- case report
- mesenchymal stem cells
- gene expression
- chronic kidney disease
- minimally invasive
- protein protein
- allogeneic hematopoietic stem cell transplantation
- amino acid