title: HMGA2 locus rearrangement in a case of acute lymphoblastic leukemia.
abstract: We report the first case of acute lymphoblastic leukemia associated with a t(9;12)(p22;q14) translocation within the HMGA2 locus. The breakpoint lies in the 5' region. Fluorescence in situ hybridization with a BAC clone covering the 5' region produced three signals versus two signals with a BAC clone covering the 3' region including intron 3 of HMGA2, which harbors most of the breakpoints described in benign mesenchymal tumors. HMGA2 locus rearrangement was associated with overexpression of an HMGA2 mRNA that lacked a carboxy-terminal tail. These results suggest that the HMGA2 gene rearrangement may contribute to the malignancy in leukemias harboring a 12q translocation.
authors.affiliation: Dipartimento di Biologia e Patologia Cellulare e Molecolare c/o Centro di Endocrinologia ed Oncologia Sperimentale del CNR, Facoltà di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
authors.forename: Giovanna Maria
authors.initials: GM
authors.lastname: Pierantoni
authors.forename: Basilia
authors.initials: B
authors.lastname: Santulli
authors.forename: Irene
authors.initials: I
authors.lastname: Caliendo
authors.forename: Francesca
authors.initials: F
authors.lastname: Pentimalli
authors.forename: Gennaro
authors.initials: G
authors.lastname: Chiappetta
authors.forename: Nicola
authors.initials: N
authors.lastname: Zanesi
authors.forename: Massimo
authors.initials: M
authors.lastname: Santoro
authors.forename: Florencia
authors.initials: F
authors.lastname: Bulrich
authors.forename: Alfredo
authors.initials: A
authors.lastname: Fusco
mesh_terms: D002648:Child; D019457:Chromosome Breakage / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D015321:Gene Rearrangement; D025743:HMGA2 Protein / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D025743:HMGA2 Protein; D012333:RNA, Messenger