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

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...

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Detalles Bibliográficos
Autores principales: Bello, Erica, Pellagatti, Andrea, Shaw, Jacqueline, Mecucci, Cristina, Kušec, Rajko, Killick, Sally, Giagounidis, Aristoteles, Raynaud, Sophie, Calasanz, María J., Fenaux, Pierre, Boultwood, Jacqueline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Haematological Malignancy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744770/
https://www.ncbi.nlm.nih.gov/pubmed/26085061
http://dx.doi.org/10.1111/bjh.13563
Descripción
Sumario: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 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).

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