title: Double CEBPE-IGH rearrangement due to chromosome duplication and cryptic insertion in an adult with B-cell acute lymphoblastic leukemia.
abstract: In an adult case of B-cell acute lymphoblastic leukemia (B-ALL) with a complex karyotype, both chromosomes 14 were involved in unbalanced rearrangements, specifically, der(14)t(13;14)(q21;q21) and dup(14)(q11q32). Fluorescence in situ hybridization (FISH) detected two CEBPE-IGH rearrangements at the dup(14). One was found at the duplication breakpoint and the other derived from insertion of CEBPE into an apparently normal IGH locus. Hypotheses to account for these unusual chromosomal rearrangements are discussed. This case provides the first evidence that chromosome duplication and cryptic insertion produce the CEBPE-IGH fusion and that more than one CEBPE-IGH recombination can occur in a leukemic cell. Our findings confirm that deregulated CEBPE plays a crucial role in the pathogenesis of CEBPE-IGH positive B-ALL.
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.forename: Antonella
authors.initials: A
authors.lastname: Vitale
authors.forename: Francesco
authors.initials: F
authors.lastname: Di Raimondo
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Loredana
authors.initials: L
authors.lastname: Elia
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Clelia Tiziana
authors.initials: CT
authors.lastname: Storlazzi
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D058674:Chromosome Duplication; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D009693:Nucleic Acid Hybridization; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; D007143:Immunoglobulin Heavy Chains; D015514:Oncogene Proteins, Fusion; C070790:CEBPE protein, human