CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q) (CROSBI ID 228829)
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Bello, Erica ; Pellagatti, Andrea ; Shaw, Jacqueline ; Mecucci, Cristina ; Kušec, Rajko ; Killick, Sally ; Giagounidis, Aristoteles ; Raynaud, Sophie ; Calasanz, Maria Jose ; Fenaux, Pierre ; Boultwood, Jacqueline
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CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q)
Mutations of the CSNK1A1, a gene mapping to the commonly deleted region of the 5q- syndrome, have been recently described in patients with del(5q) myelodysplastic syndromes (MDS). Haploinsufficiency of Csnk1a1 in mice has been shown to result in β-catenin activation and expansion of haematopoietic stem cells (HSC). We have screened a large cohort of 104 del(5q) MDS patients and have identified mutations of CSNK1A1 in five cases (4.8%). We have shown up- regulation of β-catenin target genes in the HSC of patients with del(5q) MDS. Our data further support a central role of CSNK1A1 in the pathogenesis of MDS with del(5q
MDS ; 5q- syndrome ; CSNK1A1
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