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

ABSTRACT: Mutations of 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 ?-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 (approximately 5%). We have shown up-regulation of ?-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).

SUBMITTER: Bello E

PROVIDER: S-EPMC4744770 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature

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

Bello Erica E Pellagatti Andrea A Shaw Jacqueline J Mecucci Cristina C Kušec Rajko R Killick Sally S Giagounidis Aristoteles A Raynaud Sophie S Calasanz María J MJ Fenaux Pierre P Boultwood Jacqueline J

British journal of haematology 20150618 2

Mutations of 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 (approximately 5%). We have shown up-regulation of β-catenin target gene ...[more]

PMID: 26085061

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