title: A common 93-kb duplicated DNA sequence at 1q21.2 in acute lymphoblastic leukemia and Burkitt lymphoma.
abstract: In three patients with acute lymphoblastic leukemia (ALL) and in another with Burkitt lymphoma (BL), conventional cytogenetics and fluorescence in situ hybridization (FISH), applied singly or in combination, showed 1q duplication in two cases of ALL with hyperdiploid karyotypes, 1q duplication resulting from an unbalanced translocation in a third case of ALL, and inv dup(1)(q) in a patient with BL. Centromeric or telomeric breakpoints and extension of the 1q duplicons varied in each case. FISH defined a minimal, common duplicated region of 93kb at band 1q21.2 corresponding to clone RP11-212K13. In this region three putative oncogenes or tumor suppressor genes have been mapped: SF3B4 (splicing factor 3b, subunit 4), OTUD7B (OTU domain containing 7B), and MTMR11 (myotubularin related protein 11). For the first time, a minimal common 1q21.2 duplicated sequence has been identified in lymphoid malignancies in a region where putative oncogenes or suppressor genes have been mapped. This finding elucidates the genomic background of ALL and BL with 1q duplication and provides the basis for molecular studies investigating which genes are involved in leukemogenesis or disease progression in these cases.
authors.affiliation: Department of Hematology, University of Perugia, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, via Brunamonti 51, 06122 Perugia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Silvia
authors.initials: S
authors.lastname: Romoli
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Lucia
authors.initials: L
authors.lastname: Brandimarte
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Kropp
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.forename: Massimo Fabrizio
authors.initials: MF
authors.lastname: Martelli
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D002051:Burkitt Lymphoma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D016147:Genes, Tumor Suppressor; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics
chemical_list: D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; C486347:SF3B4 protein, human