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CMML Collection of WES, WGS, RNA-Seq and ERRBS data

ABSTRACT: We first performed a comprehensive analysis of the genome of 66 chronic myelomonocytic leukemia cases using whole exome (N=49) or whole genome (N=17) sequencing for paired leukemic-control DNA. Then, we realized serial analysis of whole exome sequence in 17 cases, completed with serial RNA sequencing and DNA methylation analysis in 9 cases, including patients treated or not with hypomethylating agents.

PROVIDER: EGAS00001001264 | EGA |

REPOSITORIES: EGA

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Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede Jane J Droin Nathalie N Qin Tingting T Meldi Kristen K Yoshida Kenichi K Morabito Margot M Chautard Emilie E Auboeuf Didier D Fenaux Pierre P Braun Thorsten T Itzykson Raphael R de Botton Stéphane S Quesnel Bruno B Commes Thérèse T Jourdan Eric E Vainchenker William W Bernard Olivier O Pata-Merci Noemie N Solier Stéphanie S Gayevskiy Velimir V Dinger Marcel E ME Cowley Mark J MJ Selimoglu-Buet Dorothée D Meyer Vincent V Artiguenave François F Deleuze Jean-François JF Preudhomme Claude C Stratton Michael R MR Alexandrov Ludmil B LB Padron Eric E Ogawa Seishi S Koscielny Serge S Figueroa Maria M Solary Eric E

Nature communications 20160224

The cytidine analogues azacytidine and 5-aza-2'-deoxycytidine (decitabine) are commonly used to treat myelodysplastic syndromes, with or without a myeloproliferative component. It remains unclear whether the response to these hypomethylating agents results from a cytotoxic or an epigenetic effect. In this study, we address this question in chronic myelomonocytic leukaemia. We describe a comprehensive analysis of the mutational landscape of these tumours, combining whole-exome and whole-genome se ...[more]

PMID: 26908133

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