Laboratoire d’oncologie moléculaire, Centre de recherche en cancérologie de Marseille, UMR891 Inserm ; institut Paoli-Calmettes, 27 bd Leï-Roure, 13009 Marseille, France
Chromosome 8 is frequently involved in hematopoietic diseases. Alterations of the 8p11-12 region are found in myeloproliferative disorders (MPD) and acute myeloid leukemias (AML). In MPDs, the FGFR1 gene is involved. In AMLs, the MOZ/MYST3 gene located at 8p11 is altered. These AMLs are rare (< 1% of AML), and around 60 cases have been reported in the literature. They constitute a rather homogeneous subtype with specific clinical and biological features: they are myelomonocytic or monocytic; leukemic cells show phagocytic activity on bone marrow smears; patients have a poor outcome, as 50% of patients decease during the first ten months. Currently, only allogenic bone marrow transplantation is curative. Molecular characterization of MYST3 AMLs allowed the identification of different MYST3 partner genes and a better understanding of leukemogenesis. MYST3 and its partners code for histone acetyltransferases (HAT) and MYST3 alterations disturb expression of target genes regulated by HATs. The t(8;16)(p11;p13) translocation is the most frequent alteration and MYST3-CBP and CBP-MYST3 are the best characterized fusion transcripts.