CSNK1A1 mutations and gene expression analysis in myelodysplastic syndromes with del(5q). (18th June 2015)

• Record Type: Journal Article
• Authors: Bello, Erica; Pellagatti, Andrea; Shaw, Jacqueline; Mecucci, Cristina; Kušec, Rajko; Killick, Sally; Giagounidis, Aristoteles; Raynaud, Sophie; Calasanz, María J.; Fenaux, Pierre; Boultwood, Jacqueline
• Is Part Of: British journal of haematology. Volume 171:Number 2(2015:Oct.)
• Page Start: 210
• Page End: 214
• Publication Date: 2015-06-18
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.13563
• Languages: English
• ISSNs: 0007-1048

Abstract

<abstract abstract-type="main" id="bjh13563-abs-0001"> <title>Summary</title> <p>Mutations of <italic>CSNK1A1</italic>, 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 <italic>Csnk1a1</italic> 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 <italic>CSNK1A1</italic> in five cases (approximately 5%). 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).</p> </abstract>