title: A further case of acute myelomonocytic leukemia with inv(8) chromosomal rearrangement and MOZ-NCOA2 gene fusion.
abstract: We report here the sixth case of acute monoblastic leukemia associated with the inv(8)(p11q13) pericentric inversion. As seen in the previous cases, the inv(8)(p11q13) molecular characterization showed that the alteration results in a MOZ-NCOA2 gene fusion. The presence of erythrophagocytosis is a distinctive morphologic feature that is observed in all patients with MOZ alteration. However, the relative young age of the 6 patients (median: 23.5 years) and same sex (female) are the common characteristics that are only observed in the inv(8)-positive leukemia subgroup. In addition, we tested whether the presence of FLT3 internal duplications (ITD) are frequently found in malignant hemopathies with 8p11-12 rearrangements. We did not find any FLT3 ITD in any of the studied cases.
authors.affiliation: Département d'Oncologie Moléculaire, Laboratoire de Cytogénétique Moléculaire, Institut Paoli-Calmettes and U119 INSERM, 232 boulevard de Sainte-Marguerite, 13373 Marseille Cedex 9, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Murati
authors.forename: José
authors.initials: J
authors.lastname: Adélaïde
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Marie-Joëlle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Christine
authors.initials: C
authors.lastname: Arnoulet
authors.forename: Marina
authors.initials: M
authors.lastname: Lafage-Pochitaloff
authors.forename: Danielle
authors.initials: D
authors.lastname: Sainty
authors.forename: Daniel
authors.initials: D
authors.lastname: Birnbaum
authors.forename: Max
authors.initials: M
authors.lastname: Chaffanet
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D019677:Artificial Gene Fusion; D007446:Chromosome Inversion; D002898:Chromosomes, Human, Pair 8; D003582:Cytogenetics; D004967:Estrogens / Q000378:metabolism; D005260:Female; D020440:Gene Duplication; D051548:Histone Acetyltransferases; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008264:Macrophages / Q000378:metabolism; D008875:Middle Aged; D008957:Models, Genetic; D009363:Neoplasm Proteins / Q000235:genetics*; D051958:Nuclear Receptor Coactivator 2; D010587:Phagocytosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3
chemical_list: D004967:Estrogens; C498001:NCOA2 protein, human; D009363:Neoplasm Proteins; D051958:Nuclear Receptor Coactivator 2; D011518:Proto-Oncogene Proteins; D014157:Transcription Factors; D000123:Acetyltransferases; D051548:Histone Acetyltransferases; C108712:KAT6A protein, human; C497970:FLT3 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051941:fms-Like Tyrosine Kinase 3