title: A novelIGH@gene rearrangement associated withCDKN2A/Bdeletion in young adult B-cell acute lymphoblastic leukemia.
abstract: Acquired copy number changes are common in acute leukemia. They are reported as recurrent amplifications or deletions (del), and may be indicative of involvement of oncogenes or tumor suppressor genes in acquired disease, as well as serving as potential biomarkers for prognosis or as targets for molecular therapy. The present study reported a gain of copy number of 14q13 to 14q32, leading to immunoglobulin heavy chain locus splitting in a young adult female. To the best of our knowledge, this rearrangement has not been previously reported in B-cell acute lymphoblastic leukemia (ALL). Low resolution banding cytogenetics performed at the time of diagnosis revealed a normal karyotype. However, retrospective application of fluorescencein situhybridization (FISH) banding and locus-specific FISH probes, as well as multiplex ligation-dependent probe amplification and high resolution array-comparative genomic hybridization, revealed previously hidden aberrations. Overall, a karyotype of 46, XX, del(9) (p21.3 p21.3),derivative(14) (pter-> q32.33:: q32.33-> q13 ::q32.33-> qter) was determined. The patient was treated according to the Polish Adult Leukemia Group protocol and achieved complete remission. The results of the present study indicate that a favorable prognosis is associated with these aberrations when the aforementioned treatment is administered.
authors.affiliation: Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena D-07740, Germany.
authors.forename: Moneeb A K
authors.initials: MA
authors.lastname: Othman
authors.affiliation: Cytogenetic Laboratory, Maria Sklodowska-Curie Memorial Cancer Centre and Institute, Warsaw 02-781, Poland.
authors.forename: Beata
authors.initials: B
authors.lastname: Grygalewicz
authors.affiliation: Cytogenetic Laboratory, Maria Sklodowska-Curie Memorial Cancer Centre and Institute, Warsaw 02-781, Poland.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pienkowska-Grela
authors.affiliation: Cytogenetic Laboratory, Maria Sklodowska-Curie Memorial Cancer Centre and Institute, Warsaw 02-781, Poland.
authors.forename: Jolanta
authors.initials: J
authors.lastname: Rygier
authors.affiliation: Department of Hematology, Institute of Hematology and Transfusion Medicine, Warsaw 02-776, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Ejduk
authors.affiliation: Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena D-07740, Germany; Croatian Institute of Brain Research, Zagreb 10000, Croatia, Germany.
authors.forename: Martina
authors.initials: M
authors.lastname: Rincic
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra 3001-401, Portugal; Research Centre for Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra 3001-401, Portugal, Germany.
authors.forename: Joana B
authors.initials: JB
authors.lastname: Melo
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra 3001-401, Portugal; Research Centre for Environment, Genetics and Oncobiology, Faculty of Medicine, University of Coimbra, Coimbra 3001-401, Portugal, Germany.
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Carreira
authors.affiliation: ZytoVision GmbH, Bremerhaven D-27572, Germany.
authors.forename: Britta
authors.initials: B
authors.lastname: Meyer
authors.affiliation: Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena D-07740, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
keywords: B-cell acute lymphoblastic leukemia; array-comparative genomic hybridization; cyclin-dependent kinase inhibitor 2A/B deletion; immunoglobulin heavy locus gene rearrangement; molecular cytogenetics