Genomics

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Integrated Genomic Analysis of Chronic Lymphocytic Leukaemia

ABSTRACT: Chronic lymphocytic leukaemia (CLL) is a frequent and heterogeneous disease whose genetic alterations determining the clinicobiological behaviour are not fully understood. Here, we describe a comprehensive evaluation of the genomic landscape of 452 CLLs and 54 monoclonal B-lymphocytosis (MBL), a precursor disorder. This study provides an integrated portrait of the genomic landscape of CLL, identifies new recurrent mutations acting as drivers of the disease, and suggests clinical interventions which may improve the management of patients with this neoplasia.

PROVIDER: EGAS00001001306 | EGA |

REPOSITORIES: EGA

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Publications

Non-coding recurrent mutations in chronic lymphocytic leukaemia.

Puente Xose S XS   Beà Silvia S   Valdés-Mas Rafael R   Villamor Neus N   Gutiérrez-Abril Jesús J   Martín-Subero José I JI   Munar Marta M   Rubio-Pérez Carlota C   Jares Pedro P   Aymerich Marta M   Baumann Tycho T   Beekman Renée R   Belver Laura L   Carrio Anna A   Castellano Giancarlo G   Clot Guillem G   Colado Enrique E   Colomer Dolors D   Costa Dolors D   Delgado Julio J   Enjuanes Anna A   Estivill Xavier X   Ferrando Adolfo A AA   Gelpí Josep L JL   González Blanca B   González Santiago S   González Marcos M   Gut Marta M   Hernández-Rivas Jesús M JM   López-Guerra Mónica M   Martín-García David D   Navarro Alba A   Nicolás Pilar P   Orozco Modesto M   Payer Ángel R ÁR   Pinyol Magda M   Pisano David G DG   Puente Diana A DA   Queirós Ana C AC   Quesada Víctor V   Romeo-Casabona Carlos M CM   Royo Cristina C   Royo Romina R   Rozman María M   Russiñol Nuria N   Salaverría Itziar I   Stamatopoulos Kostas K   Stunnenberg Hendrik G HG   Tamborero David D   Terol María J MJ   Valencia Alfonso A   López-Bigas Nuria N   Torrents David D   Gut Ivo I   López-Guillermo Armando A   López-Otín Carlos C   Campo Elías E  

Nature 20150722 7574

Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11. We also identify novel recurrent mutations in non-coding regions, including the  ...[more]

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