title: Cryptic 6p21.3 duplications and triplication involving HMGA1 partially masked by add 6p in four cases of myelodysplasia.
abstract: Rearrangements of 6p are frequent in both myeloid and lymphoid malignant hematological disorders. High-mobility group AT-hook 2 (HMGA2) rearrangements have been described in myelofibrosis with myeloid metaplasia (MMM) and also in myelodysplasia. High-mobility group A proteins are nonhistone nuclear proteins that bind DNA and regulate the transcriptional activity of many genes. We used FISH, with bacterial artificial chromosome RP11-513I15 probe, to study 16 cases of myeloid malignancies with chromosome 6 short arm rearrangements, most of them following myeloproliferative disorders. Among these we found two 6p21.3 duplications and one 6p21.3 triplication involving HMGA1 in four cases of myelodysplasia with and without myelofibrosis. In these four cases, duplications and triplication were partially masked at the cytogenetic level by a derivative chromosome 6 resulting from translocation with another chromosome. HMGA1 proteins have been recently found overexpressed in human leukemias, but to our knowledge this is the first reported duplication of HMGA1.
authors.affiliation: Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, France. j-andrieux@chru-lille.fr
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Sandrine
authors.initials: S
authors.lastname: Geffroy
authors.forename: Chrystèle
authors.initials: C
authors.lastname: Bilhou-Nabera
authors.forename: Brigitte
authors.initials: B
authors.lastname: Dupriez
authors.forename: Jean Loup
authors.initials: JL
authors.lastname: Demory
authors.forename: Francis
authors.initials: F
authors.lastname: Bauters
authors.forename: Jean Luc
authors.initials: JL
authors.lastname: Laï
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
mesh_terms: D000328:Adult; D000368:Aged; D002869:Chromosome Aberrations; D002896:Chromosomes, Human, Pair 6; D005260:Female; D025741:HMGA1a Protein / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*
chemical_list: D025741:HMGA1a Protein