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Journal Articles BMC Cancer Year : 2012

Myeloid malignancies: mutations, models and management.


ABSTRACT: Myeloid malignant diseases comprise chronic (including myelodysplastic syndromes, myeloproliferative neoplasms and chronic myelomonocytic leukemia) and acute (acute myeloid leukemia) stages. They are clonal diseases arising in hematopoietic stem or progenitor cells. Mutations responsible for these diseases occur in several genes whose encoded proteins belong principally to five classes: signaling pathways proteins (e.g. CBL, FLT3, JAK2, RAS), transcription factors (e.g. CEBPA, ETV6, RUNX1), epigenetic regulators (e.g. ASXL1, DNMT3A, EZH2, IDH1, IDH2, SUZ12, TET2, UTX), tumor suppressors (e.g. TP53), and components of the spliceosome (e.g. SF3B1, SRSF2). Large-scale sequencing efforts will soon lead to the establishment of a comprehensive repertoire of these mutations, allowing for a better definition and classification of myeloid malignancies, the identification of new prognostic markers and therapeutic targets, and the development of novel therapies. Given the importance of epigenetic deregulation in myeloid diseases, the use of drugs targeting epigenetic regulators appears as a most promising therapeutic approach.


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inserm-00723845 , version 1 (14-08-2012)



Anne Murati, Mandy Brecqueville, Raynier Devillier, Marie-Joelle Mozziconacci, Véronique Gelsi-Boyer, et al.. Myeloid malignancies: mutations, models and management.. BMC Cancer, 2012, 12 (1), pp.304. ⟨10.1186/1471-2407-12-304⟩. ⟨inserm-00723845⟩
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